AustralieFrV1, PubMed, Checkpoint, bibRecord, 002929

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

Identifieur interne : 002929 ( PubMed/Checkpoint ); précédent : 002928; suivant : 002930

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 [Bulgarie] ; Steven Petrou [Australie] ; Ingo Helbig [Allemagne] ; Pasquale Striano [Italie] ; Sarah Weckhuysen [France] ; Samuel F. Berkovic [Australie] ; Ingrid E. Scheffer [Australie] ; Heather C. Mefford [États-Unis]

Source :

American journal of human genetics [ 1537-6605 ] ; 2015.

RBID : pubmed:25865495

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.

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

Affiliations:

Allemagne, Australie, Bulgarie, Danemark, France, Italie, États-Unis
Latium, Schleswig-Holstein, Sofia-ville (oblast), Washington (État), Île-de-France
Anvers, Kiel, Paris, Rome, Seattle, Sofia
Université d'Anvers, Université de Washington

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Le document en format XML

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<author><name sortKey="Nikanorova, Marina" sort="Nikanorova, Marina" uniqKey="Nikanorova M" first="Marina" last="Nikanorova">Marina Nikanorova</name>
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<author><name sortKey="Dimova, Petia" sort="Dimova, Petia" uniqKey="Dimova P" first="Petia" last="Dimova">Petia Dimova</name>
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<wicri:regionArea>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148</wicri:regionArea>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; 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>
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<author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name>
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<country xml:lang="fr">Australie</country>
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<wicri:noRegion>VIC 3084</wicri:noRegion>
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<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Saykally, Julia" sort="Saykally, Julia" uniqKey="Saykally J" first="Julia" last="Saykally">Julia Saykally</name>
<affiliation wicri:level="4"><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
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<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:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</nlm:affiliation>
<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:affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy.</nlm:affiliation>
<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:affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy.</nlm:affiliation>
<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:affiliation>Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.</nlm:affiliation>
<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:affiliation>Department of Neurology & Psychiatry, Sapienza University of Rome, Rome, Lazio 00185, Italy.</nlm:affiliation>
<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:affiliation>Department of Neurology, John Hunter Children's Hospital and University of Newcastle Faculty of Health, Newcastle, NSW 2305, Australia.</nlm:affiliation>
<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:affiliation>Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia; 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:affiliation>Danish Epilepsy Centre, 4293 Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense 5230, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Danish Epilepsy Centre, 4293 Dianalund, Denmark; 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:affiliation>Danish Epilepsy Centre, 4293 Dianalund, Denmark.</nlm:affiliation>
<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:affiliation>Epilepsy Center, St. Ivan Rilski University Hospital, Sofia 1431, Bulgaria.</nlm:affiliation>
<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="4"><nlm:affiliation>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia 1431, Bulgaria.</nlm:affiliation>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; 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>
<settlement type="city">Anvers</settlement>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</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:affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia.</nlm:affiliation>
<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="3"><nlm:affiliation>Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus and Christian-Albrechts-University of Kiel, Kiel 24118, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; 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:affiliation>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148, Italy.</nlm:affiliation>
<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="4"><nlm:affiliation>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; 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:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; 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">Anvers</settlement>
</placeName>
<orgName type="university">Université d'Anvers</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:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia.</nlm:affiliation>
<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:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia. Electronic address: scheffer@unimelb.edu.au.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; 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:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.</nlm:affiliation>
<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>
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<series><title level="j">American journal of human genetics</title>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2015" type="published">2015</date>
</imprint>
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<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>
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<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>
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<term>Épilepsies myocloniques</term>
</keywords>
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<term>Epilepsy, Generalized</term>
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<term>Épilepsie généralisée</term>
<term>Épilepsies myocloniques</term>
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<term>Epilepsy, Generalized</term>
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<term>Genetic Predisposition to Disease</term>
<term>High-Throughput Nucleotide Sequencing</term>
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<term>Mutation</term>
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<term>Mutation</term>
<term>Mâle</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25865495</PMID>
<DateCreated><Year>2015</Year>
<Month>05</Month>
<Day>11</Day>
</DateCreated>
<DateCompleted><Year>2015</Year>
<Month>07</Month>
<Day>29</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>09</Month>
<Day>22</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>96</Volume>
<Issue>5</Issue>
<PubDate><Year>2015</Year>
<Month>May</Month>
<Day>07</Day>
</PubDate>
</JournalIssue>
<Title>American journal of human genetics</Title>
<ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.</ArticleTitle>
<Pagination><MedlinePgn>808-15</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2015.02.016</ELocationID>
<ELocationID EIdType="pii" ValidYN="Y">S0002-9297(15)00069-5</ELocationID>
<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Carvill</LastName>
<ForeName>Gemma L</ForeName>
<Initials>GL</Initials>
<AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>McMahon</LastName>
<ForeName>Jacinta M</ForeName>
<Initials>JM</Initials>
<AffiliationInfo><Affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schneider</LastName>
<ForeName>Amy</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zemel</LastName>
<ForeName>Matthew</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Myers</LastName>
<ForeName>Candace T</ForeName>
<Initials>CT</Initials>
<AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Saykally</LastName>
<ForeName>Julia</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nguyen</LastName>
<ForeName>John</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Robbiano</LastName>
<ForeName>Angela</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zara</LastName>
<ForeName>Federico</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Specchio</LastName>
<ForeName>Nicola</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mecarelli</LastName>
<ForeName>Oriano</ForeName>
<Initials>O</Initials>
<AffiliationInfo><Affiliation>Department of Neurology & Psychiatry, Sapienza University of Rome, Rome, Lazio 00185, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Smith</LastName>
<ForeName>Robert L</ForeName>
<Initials>RL</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, John Hunter Children's Hospital and University of Newcastle Faculty of Health, Newcastle, NSW 2305, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Leventer</LastName>
<ForeName>Richard J</ForeName>
<Initials>RJ</Initials>
<AffiliationInfo><Affiliation>Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Møller</LastName>
<ForeName>Rikke S</ForeName>
<Initials>RS</Initials>
<AffiliationInfo><Affiliation>Danish Epilepsy Centre, 4293 Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense 5230, Denmark.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nikanorova</LastName>
<ForeName>Marina</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Danish Epilepsy Centre, 4293 Dianalund, Denmark.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Dimova</LastName>
<ForeName>Petia</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Epilepsy Center, St. Ivan Rilski University Hospital, Sofia 1431, Bulgaria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Jordanova</LastName>
<ForeName>Albena</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia 1431, Bulgaria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Petrou</LastName>
<ForeName>Steven</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><CollectiveName>EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group</CollectiveName>
</Author>
<Author ValidYN="Y"><LastName>Helbig</LastName>
<ForeName>Ingo</ForeName>
<Initials>I</Initials>
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<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Epilepsy Res. 1999 Aug;36(1):15-29</RefSource>
<PMID Version="1">10463847</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2008 May 23;283(21):14376-83</RefSource>
<PMID Version="1">18381286</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Mol Model. 2010 Jan;16(1):155-61</RefSource>
<PMID Version="1">19506924</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2013 Sep 12;501(7466):217-21</RefSource>
<PMID Version="1">23934111</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 1998 Aug;19(4):366-70</RefSource>
<PMID Version="1">9697698</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Genome Res. 2013 May;23(5):843-54</RefSource>
<PMID Version="1">23382536</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2001 Apr;68(4):866-73</RefSource>
<PMID Version="1">11254445</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neuropadiatrie. 1970 Aug;2(1):59-78</RefSource>
<PMID Version="1">5001125</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2014 Apr 10;508(7495):199-206</RefSource>
<PMID Version="1">24695229</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2011 Sep;68(9):1152-5</RefSource>
<PMID Version="1">21555602</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Lancet. 2012 Nov 10;380(9854):1674-82</RefSource>
<PMID Version="1">23020937</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Brain Dev. 2001 Nov;23(7):757-64</RefSource>
<PMID Version="1">11701290</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2001 Apr;68(4):859-65</RefSource>
<PMID Version="1">11254444</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2013 Feb 15;288(7):4549-56</RefSource>
<PMID Version="1">23288838</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Epilepsy Res. 1997 Apr;27(1):55-65</RefSource>
<PMID Version="1">9169291</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Med. 2009 Dec;15(12):1392-8</RefSource>
<PMID Version="1">19966779</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neurophysiol. 2003 Oct;90(4):2690-701</RefSource>
<PMID Version="1">12815026</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2012 May 10;485(7397):237-41</RefSource>
<PMID Version="1">22495306</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2014 Dec;164A(12):3061-8</RefSource>
<PMID Version="1">25256099</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Eur J Pediatr. 1987 Nov;146(6):550-4</RefSource>
<PMID Version="1">3123238</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 1999 Jan;45(1):75-81</RefSource>
<PMID Version="1">9894880</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Epilepsy Res. 2003 Oct;56(2-3):127-33</RefSource>
<PMID Version="1">14642997</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurosci Lett. 2011 Apr 25;494(2):180-3</RefSource>
<PMID Version="1">21396429</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Epilepsia. 2010 Apr;51(4):676-85</RefSource>
<PMID Version="1">20196795</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 2002 Dec 1;22(23):10251-66</RefSource>
<PMID Version="1">12451126</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Front Cell Neurosci. 2014 Jun 17;8:161</RefSource>
<PMID Version="1">24987330</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2001 May;28(1):49-52</RefSource>
<PMID Version="1">11326275</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurochem Res. 2014 Oct;39(10):1980-7</RefSource>
<PMID Version="1">24627365</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 1996 Oct 1;16(19):6255-64</RefSource>
<PMID Version="1">8815906</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2013 Jul;45(7):825-30</RefSource>
<PMID Version="1">23708187</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Comp Neurol. 1998 Jun 22;396(1):51-63</RefSource>
<PMID Version="1">9623887</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Epilepsia. 2005 Oct;46(10):1625-32</RefSource>
<PMID Version="1">16190934</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Pediatr Neurol. 2010 Feb;42(2):137-40</RefSource>
<PMID Version="1">20117752</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Science. 1974 Sep 6;185(4154):862-4</RefSource>
<PMID Version="1">4843792</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Biochemistry. 1983 Mar 1;22(5):1236-41</RefSource>
<PMID Version="1">6838850</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Epilepsia. 2007 Sep;48(9):1703-7</RefSource>
<PMID Version="1">17651420</PMID>
</CommentsCorrections>
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

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

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