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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Publicado no:Neurology
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2015
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Article
Acesso em linha: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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