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

doi:10.1002/ana.24580

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Article

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

Annals of neurology - 1 Mar 2016

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

Abstract excerpt

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 the major gene in all 3 conditions, found to be mutated in 80 to 90% of familial and 30 to 35% of sporadic cases....

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PMID: 26677014
DOI: 10.1002/ana.24580

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PRRT2

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