Article
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
The Turkish journal of pediatrics - 1 Jan 2020
Peycheva Valentina, Ivanova Nevyana, Kamenarova Kunka, Panova Margarita, Pacheva Iliana, Ivanov Ivan, Bojidarova Maria, Tacheva Genoveva, Stamatov Dimitar, Litvinenko Ivan, Hristova Dimitrina, Deneva Daniela, Rodopska Elena, Slavkova Elena, Aleksandrova Iliyana, Simeonov Emil, Dimova Petia, Bojinova Veneta, Mitev Vanyo, Jordanova Albena, Kaneva Radka
Abstract excerpt
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 deterioration later in life. METHODS: In the current study, 60 patients with fever-provoked seizures and suspicion either of GEFS+...
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