The phenotypic spectrum of SCN8A encephalopathy

Larsen, Jan; L. Carvill, Gemma; Gardella, Elena; Kluger, Gerhard; Schmiedel, G.; Barišić, Nina; Depienne, Christel; H. Brilstra, Eva; Mang, Yuan; Erik Nielsen, Jens; Kirkpatrick, Martin; Goudie, David; Goldman, Rebecca; Jähn, Johanna; Jepsen, Birgit; Gill, Deepak; Döcker, Miriam; Biskup, Saskia; M. McMahon, Jacinta; P.C. Koeleman, Bobby; Harris, M.L.; P. J. Braun, Kees; G. F. de Kovel, Carolien; Marini, Carla; Specchio, Nicola; Djémié, Tania; Weckhuysen, Sarah; Tommerup, Niels; Troncoso, M.; Troncoso, L.; Bevot, Andrea; Wolff, Markus; Hjalgrim, Helle; Guerrini, Renzo; E. Scheffer, Ingrid; C. Mefford, Heather; S. Møller, Rikke; Palotie, Aarno; Lehesjoki, Anna-Elina; Suls, Arvid; P.C. Koeleman, Bobby; Marini, Carla; Depienne, Christel; Craiu, Dana; K. Pal, Deb; Hoffman‐Zacharska, Dorota; Leguern, Eric; Zara, Federico; Rosenow, Felix; Çağlayan, Hande; Hjalgrim, Helle; Muhle, Hiltrud; Lerche, Holger; Helbig, Ingo; Jähn, Johanna; R. Lemke, Johannes; M. Serratosa, José; Kristine Selmer, Kaja; Martin Klein, Karl; Štěrbová, Katalin; Barišić, Nina; Gormley, Padhraig; Striano, Pasquale; May, Patrick; De Jonghe, Peter; Guerrini, Renzo; S. Møller, Rikke; Krause, Roland; Balling, Rudi; M. Sisodiya, Sanjay; von Spiczak, Sarah; Weckhuysen, Sarah; Baulac, Stéphanie; Talvik, Tiina; Stephani, Ulrich; Komárek, Vladimı́r; Weber, Yvonne

doi:10.1212/wnl.0000000000001211

Public

The phenotypic spectrum of SCN8A encephalopathy

Published in Neurology • Jan 8, 2015

Authors:

Jan Larsen

Gemma L. Carvill

Elena Gardella

Abstract

OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). 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 the ...

Subject

Spectrum (functional analysis)

Phenotype

Medicine

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