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Article

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.

Neuroscience letters - 25 Apr 2011

Yordanova Iglika, Todorov Tihomir, Dimova Petia, Hristova Dimitrina, Tincheva Radka, Litvinenko Ivan, Yotovska Olga, Kremensky Ivo, Todorova Albena

Abstract excerpt

Mutations in SCN1A gene, encoding the voltage-gated sodium channel α1-subunit, are found to be associated with severe myoclonic epilepsy in infancy or Dravet syndrome (DS), but only rarely with the myoclonic astatic epilepsy (MAE, or Doose syndrome). We report on two patients with SCN1A mutations and severe epilepsy within the spectrum of generalized epilepsy with febrile seizures plus syndrome (GEFS+), the...

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PMID: 21396429
DOI: 10.1016/j.neulet.2011.03.008

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