Benign infantile seizures and paroxysmal dyskinesia caused by an <i>SCN8A</i> mutation

Gardella, Elena; Becker, Felicitas; S. Møller, Rikke; Schubert, Julian; R. Lemke, Johannes; H.G. Larsen, Line; Eiberg, Hans; Nothnagel, Michael; Thiele, Hölger; Altmüller, Janine; Syrbe, Steffen; Merkenschlager, Andreas; Bast, Thomas; J. Steinhoff, Bernhard; Nürnberg, Peter; Mang, Yuan; Bakke Møller, Louise; Gellert, Pia; E. Heron, Sarah; M. Dibbens, Leanne; Weckhuysen, Sarah; A. Dahl, Hans; Biskup, Saskia; Tommerup, Niels; Hjalgrim, Helle; Lerche, Holger; Beniczky, Sándor; Weber, Yvonne

doi:10.1002/ana.24580

Public

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Published in Annals of Neurology • Dec 17, 2015

Authors:

Elena Gardella

Felicitas Becker

Rikke S. Møller

Abstract

OBJECTIVE: Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination-known as infantile convulsions and paroxysmal choreoathetosis (ICCA)-are related autosomal dominant diseases. PRRT2 (proline-rich transmembrane protein 2 gene) has been identified as ...

Subject

Paroxysmal dyskinesia

Dyskinesia

Medicine

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