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Case Reports
. 2017 Mar 18;5(5):613-615.
doi: 10.1002/ccr3.787. eCollection 2017 May.

Dravet syndrome: a new causative SCN1A mutation?

Martin Poryo  1 , Oriana Clasen  2 , Barbara Oehl-Jaschkowitz  3 , Alexander Christmann  3 , Ludwig Gortner  2 , Sascha Meyer  2   4
Affiliations
Case Reports

Dravet syndrome: a new causative SCN1A mutation?

Martin Poryo et al. Clin Case Rep. .

Abstract

Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

Keywords: Channelopathy; Dravet syndrome; SCN1A; severe myoclonic epilepsy of infancy.

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