The phenotypic spectrum of SCN8A encephalopathy

OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Na(v)1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS: We used high-throughput sequence analysis of th...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurology
Prif Awduron: Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G.F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4336074/
https://ncbi.nlm.nih.gov/pubmed/25568300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001211
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