A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene

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dc.contributor.authorÖz Tunçer, Gökçen
dc.contributor.departmentTıp Fakültesitr_TR
dc.date.accessioned2020-11-20T08:07:20Z
dc.date.available2020-11-20T08:07:20Z
dc.date.issued2018
dc.description.abstractDravet syndrome is a catastrophic progressive epileptic syndrome. De novo loss of function mutations on the SCN1A gene coding voltage-gated sodium channels are responsible. Disruption of the triggering of hippocampal GABAergic interneurons is assumed as the cause of fall in the seizure threshold. A ten-year-old boy first presented at age 10 months with febrile-clonic seizures, which began when he was aged 8 months. Electroencephalography was found as normal. Phenobarbital was initiated because of long-lasting seizures. However, his seizures continued and the therapy was replaced with valproic acid. On follow-up, different antiepileptics were used, which were stopped due to inefficiency or adverse effects. SCN1A gene analysis was performed and a heterozygous c.4018delC mutation was identified. This new frame-shift mutation resulting from an early stop-codon is thought to be the cause of the disease. Finally, he was prescribed valproic acid and stiripentol. For patients with fever-triggered, treatment-resistant seizures, and delayed psychomotor development, Dravet syndrome should be considered. Genetic diagnosis is important for treatment and follow-up.tr_TR
dc.description.indexPubmed
dc.identifier.endpage262tr_TR
dc.identifier.issue4tr_TR
dc.identifier.startpage259tr_TR
dc.identifier.urihttps://doi.org/10.5152/TurkPediatriArs.2018.4197tr_TR
dc.identifier.urihttp://hdl.handle.net/20.500.12575/72471
dc.identifier.volume53tr_TR
dc.language.isoentr_TR
dc.relation.isversionof10.5152/TurkPediatriArs.2018.4197tr_TR
dc.relation.journalTurk Pediatri Ars .tr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıtr_TR
dc.subjectDravet Syndrometr_TR
dc.subjectSCN1A genetr_TR
dc.subjectepilepsytr_TR
dc.titleA case of Dravet Syndrome with a newly defined mutation in the SCN1A genetr_TR
dc.typeArticletr_TR

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