Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

E, Gardella; F, Becker; RS, Møller; J, Schubert; JR, Lemke; LH, Larsen; H, Eiberg; M, Nothnagel; H, Thiele; J, Altmüller; S, Syrbe; A, Merkenschlager; T, Bast; B, Steinhoff; P, Nürnberg; Y, Mang; Møller L, Bakke; P, Gellert; SE, Heron; LM, Dibbens; S, Weckhuysen; HA, Dahl; S, Biskup; N, Tommerup; H, Hjalgrim; H, Lerche; S, Beniczky; YG, Weber

doi:10.1002/ana.24580

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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Shared by NobleBlocks on Feb 13, 2016 • 12:00 AM UTC

Authors:

Gardella E

Becker F

Møller RS

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 t...

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