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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Gepubliceerd in:Neurology
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Lippincott Williams & Wilkins 2015
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Article
Online toegang: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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