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Dravet syndrome: a new causative SCN1A mutation?

Authors :
Oriana Clasen
Ludwig Gortner
Martin Poryo
Alexander Christmann
Barbara Oehl-Jaschkowitz
Sascha Meyer
Source :
Clinical Case Reports
Publication Year :
2017
Publisher :
John Wiley and Sons Inc., 2017.

Abstract

Key Clinical Message 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.<br />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.

Details

Language :
English
ISSN :
20500904
Volume :
5
Issue :
5
Database :
OpenAIRE
Journal :
Clinical Case Reports
Accession number :
edsair.doi.dedup.....070508502fff049ba8e5af5b5af81016