Mutations in KCNT1 cause a spectrum of focal epilepsies.
Identifieur interne : 002773 ( Ncbi/Curation ); précédent : 002772; suivant : 002774Mutations in KCNT1 cause a spectrum of focal epilepsies.
Auteurs : Rikke S. M Ller [Danemark] ; Sarah E. Heron [Australie] ; Line H G. Larsen [Danemark] ; Chiao Xin Lim [Australie] ; Michael G. Ricos [Australie] ; Marta A. Bayly [Australie] ; Marjan J A. Van Kempen [Pays-Bas] ; Sylvia Klinkenberg [Pays-Bas] ; Ian Andrews [Australie] ; Kent Kelley [États-Unis] ; Gabriel M. Ronen [Canada] ; David Callen [Canada] ; Jacinta M. Mcmahon [Australie] ; Simone C. Yendle [Australie] ; Gemma L. Carvill [États-Unis] ; Heather C. Mefford [États-Unis] ; Rima Nabbout [France] ; Annapurna Poduri [États-Unis] ; Pasquale Striano [Italie] ; Maria G. Baglietto [Italie] ; Federico Zara [Italie] ; Nicholas J. Smith [Australie] ; Clair Pridmore [Australie] ; Elena Gardella [Danemark] ; Marina Nikanorova [Danemark] ; Hans Atli Dahl [Danemark] ; Pia Gellert [Danemark] ; Ingrid E. Scheffer [Australie] ; Boudewijn Gunning [Pays-Bas] ; Bente Kragh-Olsen [Danemark] ; Leanne M. Dibbens [Australie]Source :
- Epilepsia [ 1528-1167 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Potassium Channels.
- genetics : Epilepsies, Partial, Mutation, Sudden Infant Death.
- Adolescent, Age of Onset, Child, Child, Preschool, Female, Humans, Infant, Male.
Abstract
Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI, even within the same family. This indicates that genotype-phenotype relationships for KCNT1 mutations are not straightforward. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than ADNFLE and MMFSI. KCNT1 mutations are now associated with Ohtahara syndrome, MMFSI, and nocturnal focal epilepsy. They may also be associated with multifocal epilepsy and cardiac disturbances.
DOI: 10.1111/epi.13071
PubMed: 26122718
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Ronen</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Callen, David" sort="Callen, David" uniqKey="Callen D" first="David" last="Callen">David Callen</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></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="4"><nlm:affiliation>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Yendle, Simone C" sort="Yendle, Simone C" uniqKey="Yendle S" first="Simone C" last="Yendle">Simone C. Yendle</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><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:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, U.S.A.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</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="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, Washington, U.S.A.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</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="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hospital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hospital Necker-Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Poduri, Annapurna" sort="Poduri, Annapurna" uniqKey="Poduri A" first="Annapurna" last="Poduri">Annapurna Poduri</name><affiliation wicri:level="2"><nlm:affiliation>Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, U.S.A.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></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, G. Gaslini Institute, University of Genoa, Genova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Baglietto, Maria G" sort="Baglietto, Maria G" uniqKey="Baglietto M" first="Maria G" last="Baglietto">Maria G. Baglietto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova</wicri:regionArea><wicri:noRegion>Genova</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, G. Gaslini Institute, Genova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, G. Gaslini Institute, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Smith, Nicholas J" sort="Smith, Nicholas J" uniqKey="Smith N" first="Nicholas J" last="Smith">Nicholas J. Smith</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Women's and Children's Health Network, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Women's and Children's Health Network, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Pridmore, Clair" sort="Pridmore, Clair" uniqKey="Pridmore C" first="Clair" last="Pridmore">Clair Pridmore</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Women's and Children's Health Network, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Women's and Children's Health Network, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</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 Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Dahl, Hans Atli" sort="Dahl, Hans Atli" uniqKey="Dahl H" first="Hans Atli" last="Dahl">Hans Atli Dahl</name><affiliation wicri:level="1"><nlm:affiliation>Amplexa Genetics, Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Amplexa Genetics, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Gellert, Pia" sort="Gellert, Pia" uniqKey="Gellert P" first="Pia" last="Gellert">Pia Gellert</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</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="4"><nlm:affiliation>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Gunning, Boudewijn" sort="Gunning, Boudewijn" uniqKey="Gunning B" first="Boudewijn" last="Gunning">Boudewijn Gunning</name><affiliation wicri:level="1"><nlm:affiliation>SEIN - Epilepsy Institutes in the Netherlands Foundation, Zwolle, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>SEIN - Epilepsy Institutes in the Netherlands Foundation, Zwolle</wicri:regionArea><wicri:noRegion>Zwolle</wicri:noRegion></affiliation></author><author><name sortKey="Kragh Olsen, Bente" sort="Kragh Olsen, Bente" uniqKey="Kragh Olsen B" first="Bente" last="Kragh-Olsen">Bente Kragh-Olsen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Pediatrics, Aarhus University Hospital, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></affiliation></author><author><name sortKey="Dibbens, Leanne M" sort="Dibbens, Leanne M" uniqKey="Dibbens L" first="Leanne M" last="Dibbens">Leanne M. Dibbens</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26122718</idno><idno type="pmid">26122718</idno><idno type="doi">10.1111/epi.13071</idno><idno type="wicri:Area/PubMed/Corpus">002960</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002960</idno><idno type="wicri:Area/PubMed/Curation">002891</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002891</idno><idno type="wicri:Area/PubMed/Checkpoint">002891</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002891</idno><idno type="wicri:Area/Ncbi/Merge">002773</idno><idno type="wicri:Area/Ncbi/Curation">002773</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutations in KCNT1 cause a spectrum of focal epilepsies.</title><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 Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Heron, Sarah E" sort="Heron, Sarah E" uniqKey="Heron S" first="Sarah E" last="Heron">Sarah E. Heron</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Larsen, Line H G" sort="Larsen, Line H G" uniqKey="Larsen L" first="Line H G" last="Larsen">Line H G. Larsen</name><affiliation wicri:level="1"><nlm:affiliation>Amplexa Genetics, Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Amplexa Genetics, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Lim, Chiao Xin" sort="Lim, Chiao Xin" uniqKey="Lim C" first="Chiao Xin" last="Lim">Chiao Xin Lim</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Ricos, Michael G" sort="Ricos, Michael G" uniqKey="Ricos M" first="Michael G" last="Ricos">Michael G. Ricos</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Bayly, Marta A" sort="Bayly, Marta A" uniqKey="Bayly M" first="Marta A" last="Bayly">Marta A. Bayly</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Van Kempen, Marjan J A" sort="Van Kempen, Marjan J A" uniqKey="Van Kempen M" first="Marjan J A" last="Van Kempen">Marjan J A. Van Kempen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Medical Genetics, University Medical Centre Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Klinkenberg, Sylvia" sort="Klinkenberg, Sylvia" uniqKey="Klinkenberg S" first="Sylvia" last="Klinkenberg">Sylvia Klinkenberg</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Maastricht University Medical Center, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Andrews, Ian" sort="Andrews, Ian" uniqKey="Andrews I" first="Ian" last="Andrews">Ian Andrews</name><affiliation wicri:level="1"><nlm:affiliation>Neurology Service, Sydney Children's Hospital, Randwick, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Neurology Service, Sydney Children's Hospital, Randwick, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Kelley, Kent" sort="Kelley, Kent" uniqKey="Kelley K" first="Kent" last="Kelley">Kent Kelley</name><affiliation wicri:level="2"><nlm:affiliation>NorthShore University HealthSystem, Evanston, Illinois, U.S.A.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>NorthShore University HealthSystem, Evanston, Illinois</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Ronen, Gabriel M" sort="Ronen, Gabriel M" uniqKey="Ronen G" first="Gabriel M" last="Ronen">Gabriel M. Ronen</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Callen, David" sort="Callen, David" uniqKey="Callen D" first="David" last="Callen">David Callen</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></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="4"><nlm:affiliation>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Yendle, Simone C" sort="Yendle, Simone C" uniqKey="Yendle S" first="Simone C" last="Yendle">Simone C. Yendle</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><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:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, U.S.A.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</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="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, Washington, U.S.A.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</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="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hospital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hospital Necker-Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Poduri, Annapurna" sort="Poduri, Annapurna" uniqKey="Poduri A" first="Annapurna" last="Poduri">Annapurna Poduri</name><affiliation wicri:level="2"><nlm:affiliation>Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, U.S.A.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></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, G. Gaslini Institute, University of Genoa, Genova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Baglietto, Maria G" sort="Baglietto, Maria G" uniqKey="Baglietto M" first="Maria G" last="Baglietto">Maria G. Baglietto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova</wicri:regionArea><wicri:noRegion>Genova</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, G. Gaslini Institute, Genova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, G. Gaslini Institute, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Smith, Nicholas J" sort="Smith, Nicholas J" uniqKey="Smith N" first="Nicholas J" last="Smith">Nicholas J. Smith</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Women's and Children's Health Network, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Women's and Children's Health Network, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Pridmore, Clair" sort="Pridmore, Clair" uniqKey="Pridmore C" first="Clair" last="Pridmore">Clair Pridmore</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Women's and Children's Health Network, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Women's and Children's Health Network, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</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 Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Dahl, Hans Atli" sort="Dahl, Hans Atli" uniqKey="Dahl H" first="Hans Atli" last="Dahl">Hans Atli Dahl</name><affiliation wicri:level="1"><nlm:affiliation>Amplexa Genetics, Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Amplexa Genetics, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Gellert, Pia" sort="Gellert, Pia" uniqKey="Gellert P" first="Pia" last="Gellert">Pia Gellert</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</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="4"><nlm:affiliation>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Gunning, Boudewijn" sort="Gunning, Boudewijn" uniqKey="Gunning B" first="Boudewijn" last="Gunning">Boudewijn Gunning</name><affiliation wicri:level="1"><nlm:affiliation>SEIN - Epilepsy Institutes in the Netherlands Foundation, Zwolle, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>SEIN - Epilepsy Institutes in the Netherlands Foundation, Zwolle</wicri:regionArea><wicri:noRegion>Zwolle</wicri:noRegion></affiliation></author><author><name sortKey="Kragh Olsen, Bente" sort="Kragh Olsen, Bente" uniqKey="Kragh Olsen B" first="Bente" last="Kragh-Olsen">Bente Kragh-Olsen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Pediatrics, Aarhus University Hospital, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></affiliation></author><author><name sortKey="Dibbens, Leanne M" sort="Dibbens, Leanne M" uniqKey="Dibbens L" first="Leanne M" last="Dibbens">Leanne M. Dibbens</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author></analytic><series><title level="j">Epilepsia</title><idno type="eISSN">1528-1167</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Epilepsies, Partial (genetics)</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Mutation (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Potassium Channels (genetics)</term><term>Sudden Infant Death (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Canaux potassiques (génétique)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Mort subite du nourrisson (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Nourrisson</term><term>Protéines de tissu nerveux (génétique)</term><term>Âge de début</term><term>Épilepsies partielles (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Potassium Channels</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsies, Partial</term><term>Mutation</term><term>Sudden Infant Death</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Canaux potassiques</term><term>Mort subite du nourrisson</term><term>Mutation</term><term>Protéines de tissu nerveux</term><term>Épilepsies partielles</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Nourrisson</term><term>Âge de début</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI, even within the same family. This indicates that genotype-phenotype relationships for KCNT1 mutations are not straightforward. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than ADNFLE and MMFSI. KCNT1 mutations are now associated with Ohtahara syndrome, MMFSI, and nocturnal focal epilepsy. They may also be associated with multifocal epilepsy and cardiac disturbances.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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