AustralieFrV1, Main, Exploration, bibRecord, 002B06

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Identifieur interne : 002B06 ( Main/Exploration ); précédent : 002B05; suivant : 002B07

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Auteurs : Gemma L. Carvill [États-Unis] ; Jacinta M. Mcmahon [Australie] ; Amy Schneider [Australie] ; Matthew Zemel [États-Unis] ; Candace T. Myers [États-Unis] ; Julia Saykally [États-Unis] ; John Nguyen [États-Unis] ; Angela Robbiano [Italie] ; Federico Zara [Italie] ; Nicola Specchio [Italie] ; Oriano Mecarelli [Italie] ; Robert L. Smith [Australie] ; Richard J. Leventer [Australie] ; Rikke S. M Ller [Danemark] ; Marina Nikanorova [Danemark] ; Petia Dimova [Bulgarie] ; Albena Jordanova [Belgique, Bulgarie] ; Steven Petrou [Australie] ; Ingo Helbig [États-Unis, Allemagne] ; Pasquale Striano [Italie] ; Sarah Weckhuysen [Belgique, France] ; Samuel F. Berkovic [Australie] ; Ingrid E. Scheffer [Australie] ; Heather C. Mefford [États-Unis]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2015.

RBID : PMC:4570550

Descripteurs français

KwdFr :
- Animaux, Humains, Mutation, Mâle, Prédisposition génétique à une maladie, Souris, Séquençage nucléotidique à haut débit, Transporteurs de GABA (génétique), Épilepsie généralisée (anatomopathologie), Épilepsie généralisée (génétique), Épilepsies myocloniques (anatomopathologie), Épilepsies myocloniques (génétique).
MESH :
- anatomopathologie : Épilepsie généralisée, Épilepsies myocloniques.
- génétique : Transporteurs de GABA, Épilepsie généralisée, Épilepsies myocloniques.
- Animaux, Humains, Mutation, Mâle, Prédisposition génétique à une maladie, Souris, Séquençage nucléotidique à haut débit.

English descriptors

KwdEn :
- Animals, Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (pathology), Epilepsy, Generalized (genetics), Epilepsy, Generalized (pathology), GABA Plasma Membrane Transport Proteins (genetics), Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Male, Mice, Mutation.
MESH :
- chemical , genetics : GABA Plasma Membrane Transport Proteins.
- genetics : Epilepsies, Myoclonic, Epilepsy, Generalized.
- pathology : Epilepsies, Myoclonic, Epilepsy, Generalized.
- Animals, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Male, Mice, Mutation.

Abstract

GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many of the electrophysiological properties of Gat1-deficient mice, including spontaneous spike-wave discharges. Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ∼4% of unsolved MAE cases.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570550

DOI: 10.1016/j.ajhg.2015.02.016
PubMed: 25865495
PubMed Central: 4570550

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in the GABA Transporter <italic>SLC6A1</italic>
 Cause Epilepsy with Myoclonic-Atonic Seizures</title>
<author><name sortKey="Carvill, Gemma L" sort="Carvill, Gemma L" uniqKey="Carvill G" first="Gemma L." last="Carvill">Gemma L. Carvill</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schneider, Amy" sort="Schneider, Amy" uniqKey="Schneider A" first="Amy" last="Schneider">Amy Schneider</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zemel, Matthew" sort="Zemel, Matthew" uniqKey="Zemel M" first="Matthew" last="Zemel">Matthew Zemel</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T." last="Myers">Candace T. Myers</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Saykally, Julia" sort="Saykally, Julia" uniqKey="Saykally J" first="Julia" last="Saykally">Julia Saykally</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Nguyen, John" sort="Nguyen, John" uniqKey="Nguyen J" first="John" last="Nguyen">John Nguyen</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Robbiano, Angela" sort="Robbiano, Angela" uniqKey="Robbiano A" first="Angela" last="Robbiano">Angela Robbiano</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148</wicri:regionArea>
<wicri:noRegion>Genova 16148</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148</wicri:regionArea>
<wicri:noRegion>Genova 16148</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Specchio, Nicola" sort="Specchio, Nicola" uniqKey="Specchio N" first="Nicola" last="Specchio">Nicola Specchio</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Division of Neurology, Department of Neuroscience, Bambino Gesù Children’s Hospital IRCCS, Rome 00165, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Neurology, Department of Neuroscience, Bambino Gesù Children’s Hospital IRCCS, Rome 00165</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mecarelli, Oriano" sort="Mecarelli, Oriano" uniqKey="Mecarelli O" first="Oriano" last="Mecarelli">Oriano Mecarelli</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Department of Neurology & Psychiatry, Sapienza University of Rome, Rome, Lazio 00185, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology & Psychiatry, Sapienza University of Rome, Rome, Lazio 00185</wicri:regionArea>
<wicri:noRegion>Lazio 00185</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Smith, Robert L" sort="Smith, Robert L" uniqKey="Smith R" first="Robert L." last="Smith">Robert L. Smith</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Neurology, John Hunter Children’s Hospital and University of Newcastle Faculty of Health, Newcastle, NSW 2305, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, John Hunter Children’s Hospital and University of Newcastle Faculty of Health, Newcastle, NSW 2305</wicri:regionArea>
<wicri:noRegion>NSW 2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J." last="Leventer">Richard J. Leventer</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Paediatrics, University of Melbourne and Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Melbourne and Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8">Department of Neurology, Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff9">Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S." last="M Ller">Rikke S. M Ller</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Danish Epilepsy Centre, 4293 Dianalund, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Danish Epilepsy Centre, 4293 Dianalund</wicri:regionArea>
<wicri:noRegion>4293 Dianalund</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Institute for Regional Health Services, University of Southern Denmark, Odense 5230, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Institute for Regional Health Services, University of Southern Denmark, Odense 5230</wicri:regionArea>
<wicri:noRegion>Odense 5230</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nikanorova, Marina" sort="Nikanorova, Marina" uniqKey="Nikanorova M" first="Marina" last="Nikanorova">Marina Nikanorova</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Danish Epilepsy Centre, 4293 Dianalund, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Danish Epilepsy Centre, 4293 Dianalund</wicri:regionArea>
<wicri:noRegion>4293 Dianalund</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dimova, Petia" sort="Dimova, Petia" uniqKey="Dimova P" first="Petia" last="Dimova">Petia Dimova</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Epilepsy Center, St. Ivan Rilski University Hospital, Sofia 1431, Bulgaria</nlm:aff>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Epilepsy Center, St. Ivan Rilski University Hospital, Sofia 1431</wicri:regionArea>
<placeName><settlement type="city">Sofia</settlement>
<region nuts="2">Sofia-ville (oblast)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610</wicri:regionArea>
<wicri:noRegion>Antwerp 2610</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff14">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15">Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia 1431, Bulgaria</nlm:aff>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia 1431</wicri:regionArea>
<placeName><settlement type="city">Sofia</settlement>
<region nuts="2">Sofia-ville (oblast)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name>
<affiliation wicri:level="2"><nlm:aff id="aff17">Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff18">Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus and Christian-Albrechts-University of Kiel, Kiel 24118, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus and Christian-Albrechts-University of Kiel, Kiel 24118</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Striano, Pasquale" sort="Striano, Pasquale" uniqKey="Striano P" first="Pasquale" last="Striano">Pasquale Striano</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148</wicri:regionArea>
<wicri:noRegion>Genova 16148</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Weckhuysen, Sarah" sort="Weckhuysen, Sarah" uniqKey="Weckhuysen S" first="Sarah" last="Weckhuysen">Sarah Weckhuysen</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610</wicri:regionArea>
<wicri:noRegion>Antwerp 2610</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff14">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff20">INSERM U 1127, Centre National de la Recherche Scientifique UMR 7225, Université Pierre et Marie Curie (Paris 6) UMR S 1127, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, Paris 75013, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U 1127, Centre National de la Recherche Scientifique UMR 7225, Université Pierre et Marie Curie (Paris 6) UMR S 1127, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, Paris 75013</wicri:regionArea>
<wicri:noRegion>75013</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Paediatrics, University of Melbourne and Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Melbourne and Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff16">Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C." last="Mefford">Heather C. Mefford</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">25865495</idno>
<idno type="pmc">4570550</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570550</idno>
<idno type="RBID">PMC:4570550</idno>
<idno type="doi">10.1016/j.ajhg.2015.02.016</idno>
<date when="2015">2015</date>
<idno type="wicri:Area/Pmc/Corpus">001213</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001213</idno>
<idno type="wicri:Area/Pmc/Curation">001074</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001074</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000E47</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000E47</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">002D68</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002D68</idno>
<idno type="wicri:Area/PubMed/Curation">002C93</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002C93</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002C93</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002C93</idno>
<idno type="wicri:Area/Ncbi/Merge">002443</idno>
<idno type="wicri:Area/Ncbi/Curation">002443</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002443</idno>
<idno type="wicri:doubleKey">0002-9297:2015:Carvill G:mutations:in:the</idno>
<idno type="wicri:Area/Main/Merge">002B06</idno>
<idno type="wicri:Area/Main/Curation">002B06</idno>
<idno type="wicri:Area/Main/Exploration">002B06</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in the GABA Transporter <italic>SLC6A1</italic>
 Cause Epilepsy with Myoclonic-Atonic Seizures</title>
<author><name sortKey="Carvill, Gemma L" sort="Carvill, Gemma L" uniqKey="Carvill G" first="Gemma L." last="Carvill">Gemma L. Carvill</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schneider, Amy" sort="Schneider, Amy" uniqKey="Schneider A" first="Amy" last="Schneider">Amy Schneider</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zemel, Matthew" sort="Zemel, Matthew" uniqKey="Zemel M" first="Matthew" last="Zemel">Matthew Zemel</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T." last="Myers">Candace T. Myers</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Saykally, Julia" sort="Saykally, Julia" uniqKey="Saykally J" first="Julia" last="Saykally">Julia Saykally</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Nguyen, John" sort="Nguyen, John" uniqKey="Nguyen J" first="John" last="Nguyen">John Nguyen</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Robbiano, Angela" sort="Robbiano, Angela" uniqKey="Robbiano A" first="Angela" last="Robbiano">Angela Robbiano</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148</wicri:regionArea>
<wicri:noRegion>Genova 16148</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148</wicri:regionArea>
<wicri:noRegion>Genova 16148</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Specchio, Nicola" sort="Specchio, Nicola" uniqKey="Specchio N" first="Nicola" last="Specchio">Nicola Specchio</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Division of Neurology, Department of Neuroscience, Bambino Gesù Children’s Hospital IRCCS, Rome 00165, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Neurology, Department of Neuroscience, Bambino Gesù Children’s Hospital IRCCS, Rome 00165</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mecarelli, Oriano" sort="Mecarelli, Oriano" uniqKey="Mecarelli O" first="Oriano" last="Mecarelli">Oriano Mecarelli</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Department of Neurology & Psychiatry, Sapienza University of Rome, Rome, Lazio 00185, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology & Psychiatry, Sapienza University of Rome, Rome, Lazio 00185</wicri:regionArea>
<wicri:noRegion>Lazio 00185</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Smith, Robert L" sort="Smith, Robert L" uniqKey="Smith R" first="Robert L." last="Smith">Robert L. Smith</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Neurology, John Hunter Children’s Hospital and University of Newcastle Faculty of Health, Newcastle, NSW 2305, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, John Hunter Children’s Hospital and University of Newcastle Faculty of Health, Newcastle, NSW 2305</wicri:regionArea>
<wicri:noRegion>NSW 2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J." last="Leventer">Richard J. Leventer</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Paediatrics, University of Melbourne and Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Melbourne and Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8">Department of Neurology, Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff9">Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S." last="M Ller">Rikke S. M Ller</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Danish Epilepsy Centre, 4293 Dianalund, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Danish Epilepsy Centre, 4293 Dianalund</wicri:regionArea>
<wicri:noRegion>4293 Dianalund</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Institute for Regional Health Services, University of Southern Denmark, Odense 5230, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Institute for Regional Health Services, University of Southern Denmark, Odense 5230</wicri:regionArea>
<wicri:noRegion>Odense 5230</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nikanorova, Marina" sort="Nikanorova, Marina" uniqKey="Nikanorova M" first="Marina" last="Nikanorova">Marina Nikanorova</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Danish Epilepsy Centre, 4293 Dianalund, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Danish Epilepsy Centre, 4293 Dianalund</wicri:regionArea>
<wicri:noRegion>4293 Dianalund</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dimova, Petia" sort="Dimova, Petia" uniqKey="Dimova P" first="Petia" last="Dimova">Petia Dimova</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Epilepsy Center, St. Ivan Rilski University Hospital, Sofia 1431, Bulgaria</nlm:aff>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Epilepsy Center, St. Ivan Rilski University Hospital, Sofia 1431</wicri:regionArea>
<placeName><settlement type="city">Sofia</settlement>
<region nuts="2">Sofia-ville (oblast)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610</wicri:regionArea>
<wicri:noRegion>Antwerp 2610</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff14">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15">Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia 1431, Bulgaria</nlm:aff>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia 1431</wicri:regionArea>
<placeName><settlement type="city">Sofia</settlement>
<region nuts="2">Sofia-ville (oblast)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name>
<affiliation wicri:level="2"><nlm:aff id="aff17">Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff18">Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus and Christian-Albrechts-University of Kiel, Kiel 24118, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus and Christian-Albrechts-University of Kiel, Kiel 24118</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Striano, Pasquale" sort="Striano, Pasquale" uniqKey="Striano P" first="Pasquale" last="Striano">Pasquale Striano</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148</wicri:regionArea>
<wicri:noRegion>Genova 16148</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Weckhuysen, Sarah" sort="Weckhuysen, Sarah" uniqKey="Weckhuysen S" first="Sarah" last="Weckhuysen">Sarah Weckhuysen</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610</wicri:regionArea>
<wicri:noRegion>Antwerp 2610</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff14">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff20">INSERM U 1127, Centre National de la Recherche Scientifique UMR 7225, Université Pierre et Marie Curie (Paris 6) UMR S 1127, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, Paris 75013, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U 1127, Centre National de la Recherche Scientifique UMR 7225, Université Pierre et Marie Curie (Paris 6) UMR S 1127, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, Paris 75013</wicri:regionArea>
<wicri:noRegion>75013</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Paediatrics, University of Melbourne and Royal Children’s Hospital, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Melbourne and Royal Children’s Hospital, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff16">Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084</wicri:regionArea>
<wicri:noRegion>VIC 3084</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C." last="Mefford">Heather C. Mefford</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term>
<term>Epilepsies, Myoclonic (genetics)</term>
<term>Epilepsies, Myoclonic (pathology)</term>
<term>Epilepsy, Generalized (genetics)</term>
<term>Epilepsy, Generalized (pathology)</term>
<term>GABA Plasma Membrane Transport Proteins (genetics)</term>
<term>Genetic Predisposition to Disease</term>
<term>High-Throughput Nucleotide Sequencing</term>
<term>Humans</term>
<term>Male</term>
<term>Mice</term>
<term>Mutation</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Prédisposition génétique à une maladie</term>
<term>Souris</term>
<term>Séquençage nucléotidique à haut débit</term>
<term>Transporteurs de GABA (génétique)</term>
<term>Épilepsie généralisée (anatomopathologie)</term>
<term>Épilepsie généralisée (génétique)</term>
<term>Épilepsies myocloniques (anatomopathologie)</term>
<term>Épilepsies myocloniques (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GABA Plasma Membrane Transport Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Épilepsie généralisée</term>
<term>Épilepsies myocloniques</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsies, Myoclonic</term>
<term>Epilepsy, Generalized</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Transporteurs de GABA</term>
<term>Épilepsie généralisée</term>
<term>Épilepsies myocloniques</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Epilepsies, Myoclonic</term>
<term>Epilepsy, Generalized</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Animals</term>
<term>Genetic Predisposition to Disease</term>
<term>High-Throughput Nucleotide Sequencing</term>
<term>Humans</term>
<term>Male</term>
<term>Mice</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Animaux</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Prédisposition génétique à une maladie</term>
<term>Souris</term>
<term>Séquençage nucléotidique à haut débit</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>GAT-1, encoded by <italic>SLC6A1</italic>
, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six <italic>SLC6A1</italic>
 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many of the electrophysiological properties of Gat1-deficient mice, including spontaneous spike-wave discharges. Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ∼4% of unsolved MAE cases.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Bulgarie</li>
<li>Danemark</li>
<li>France</li>
<li>Italie</li>
<li>États-Unis</li>
</country>
<region><li>Latium</li>
<li>Pennsylvanie</li>
<li>Province d'Anvers</li>
<li>Région flamande</li>
<li>Schleswig-Holstein</li>
<li>Sofia-ville (oblast)</li>
<li>Washington (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Anvers</li>
<li>Kiel</li>
<li>Paris</li>
<li>Rome</li>
<li>Seattle</li>
<li>Sofia</li>
</settlement>
<orgName><li>Université Pierre-et-Marie-Curie</li>
<li>Université d'Anvers</li>
<li>Université de Washington</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Carvill, Gemma L" sort="Carvill, Gemma L" uniqKey="Carvill G" first="Gemma L." last="Carvill">Gemma L. Carvill</name>
</region>
<name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name>
<name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C." last="Mefford">Heather C. Mefford</name>
<name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T." last="Myers">Candace T. Myers</name>
<name sortKey="Nguyen, John" sort="Nguyen, John" uniqKey="Nguyen J" first="John" last="Nguyen">John Nguyen</name>
<name sortKey="Saykally, Julia" sort="Saykally, Julia" uniqKey="Saykally J" first="Julia" last="Saykally">Julia Saykally</name>
<name sortKey="Zemel, Matthew" sort="Zemel, Matthew" uniqKey="Zemel M" first="Matthew" last="Zemel">Matthew Zemel</name>
</country>
<country name="Australie"><noRegion><name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name>
</noRegion>
<name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name>
<name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J." last="Leventer">Richard J. Leventer</name>
<name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J." last="Leventer">Richard J. Leventer</name>
<name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J." last="Leventer">Richard J. Leventer</name>
<name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name>
<name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name>
<name sortKey="Schneider, Amy" sort="Schneider, Amy" uniqKey="Schneider A" first="Amy" last="Schneider">Amy Schneider</name>
<name sortKey="Smith, Robert L" sort="Smith, Robert L" uniqKey="Smith R" first="Robert L." last="Smith">Robert L. Smith</name>
</country>
<country name="Italie"><noRegion><name sortKey="Robbiano, Angela" sort="Robbiano, Angela" uniqKey="Robbiano A" first="Angela" last="Robbiano">Angela Robbiano</name>
</noRegion>
<name sortKey="Mecarelli, Oriano" sort="Mecarelli, Oriano" uniqKey="Mecarelli O" first="Oriano" last="Mecarelli">Oriano Mecarelli</name>
<name sortKey="Specchio, Nicola" sort="Specchio, Nicola" uniqKey="Specchio N" first="Nicola" last="Specchio">Nicola Specchio</name>
<name sortKey="Striano, Pasquale" sort="Striano, Pasquale" uniqKey="Striano P" first="Pasquale" last="Striano">Pasquale Striano</name>
<name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name>
</country>
<country name="Danemark"><noRegion><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S." last="M Ller">Rikke S. M Ller</name>
</noRegion>
<name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S." last="M Ller">Rikke S. M Ller</name>
<name sortKey="Nikanorova, Marina" sort="Nikanorova, Marina" uniqKey="Nikanorova M" first="Marina" last="Nikanorova">Marina Nikanorova</name>
</country>
<country name="Bulgarie"><region name="Sofia-ville (oblast)"><name sortKey="Dimova, Petia" sort="Dimova, Petia" uniqKey="Dimova P" first="Petia" last="Dimova">Petia Dimova</name>
</region>
<name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
</country>
<country name="Belgique"><noRegion><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
</noRegion>
<name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
<name sortKey="Weckhuysen, Sarah" sort="Weckhuysen, Sarah" uniqKey="Weckhuysen S" first="Sarah" last="Weckhuysen">Sarah Weckhuysen</name>
<name sortKey="Weckhuysen, Sarah" sort="Weckhuysen, Sarah" uniqKey="Weckhuysen S" first="Sarah" last="Weckhuysen">Sarah Weckhuysen</name>
</country>
<country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name>
</region>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Weckhuysen, Sarah" sort="Weckhuysen, Sarah" uniqKey="Weckhuysen S" first="Sarah" last="Weckhuysen">Sarah Weckhuysen</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002B06 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002B06 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:4570550
   |texte=   Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:25865495" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a AustralieFrV1

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.