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SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype

Background. Dravet syndrome (DS) is the most severe form of Generalized Epilepsy with Febrile Seizures plus (GEFS+) syndrome with a clear genetic component in 85% of the cases. It is characterized by fever-provoked seizure onset around six months of age and subsequent developmental deteriorat...

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Autori principali: Valentina Peycheva, Elena Rodopska, Elena Slavkova, Iliyana Aleksandrova, Emil Simeonov, Petia Dimova, Veneta Bojinova, Vanyo Mitev, Albena Jordanova, Daniela Deneva, Dimitrina Hristova, Ivan Litvinenko, Nevyana Ivanova, Kunka Kamenarova, Margarita Panova, Iliana Pacheva, Ivan Ivanov, Maria Bojidarova, Genoveva Tacheva, Dimitar Stamatov, Radka Kaneva
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hacettepe University Institute of Child Health 2020-10-01
Serie:The Turkish Journal of Pediatrics
Soggetti:
Dravet syndrome
GEFS+
SCN1A mutation
seizures
Accesso online:https://turkjpediatr.org/article/view/506
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