A novel SCN1A mutation: A case report

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dc.authoridözgör, bilge/0000-0002-6697-7629
dc.authoridKirik, SERKAN/0000-0002-8658-2448
dc.authorwosidözgör, bilge/ABI-8272-2020
dc.authorwosidKIRIK, SERKAN/W-3856-2017
dc.authorwosidKirik, SERKAN/ADX-1582-2022
dc.contributor.authorAslan, Mahmut
dc.contributor.authorOzgor, Bilge
dc.contributor.authorKirik, Serkan
dc.contributor.authorGungor, Serdal
dc.date.accessioned2024-08-04T20:48:57Z
dc.date.available2024-08-04T20:48:57Z
dc.date.issued2020
dc.departmentİnönü Üniversitesien_US
dc.description.abstractIntroduction: Dravet syndrome (DS) is characterized by severe infant-onset myoclonic epilepsy with delayed psychomotor development and increased premature mortality. The seizures triggered by fire have been gradually decreased over time, and finally they start to occur without fever at the age of 2-3 years. Along with its initiation of myoclonic seizures in the early period, other types such as atypical absence, versive, and complex partial seizures occur between 1 and 4 years of age. Case Report: A 3-year-old male patient with refractory epilepsy and neuromotor developmental retardation was admitted to our clinic. The patient initially had seizures in the afebrile period, when he was 4 months old, and he had a total of five seizures by the age of 1 year. Neuromotor developmental retardation developed over time in patients with normal neuromotor development in the early stages of his life. His cranial magnetic resonance imaging and metabolic test findings were normal. The SCN1A mutation was investigated, and a new variant mutation of SCN1A, homozygous (p.Y1599FfsFNx0119-c.4796delA) was detected. The patient's family was also screened and this new mutation was detected as heterozygous mutation. The patient had hepatomegaly. The etiology of hepatomegaly was investigated but no cause was found. Conclusion: Variant mutations of DS should be kept in mind and diagnostic genetic testing should be done in patients with neuromotor developmental retardation starting with afebrile seizures. In DS, hepatomegaly is not an expected condition. Maybe this new mutation might have caused hepatomegaly.en_US
dc.identifier.doi10.4103/jpn.JPN_118_18
dc.identifier.endpage123en_US
dc.identifier.issn1817-1745
dc.identifier.issn1998-3948
dc.identifier.issue2en_US
dc.identifier.pmid33042244en_US
dc.identifier.scopus2-s2.0-85092004529en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage120en_US
dc.identifier.urihttps://doi.org/10.4103/jpn.JPN_118_18
dc.identifier.urihttps://hdl.handle.net/11616/99567
dc.identifier.volume15en_US
dc.identifier.wosWOS:000549931600012en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWolters Kluwer Medknow Publicationsen_US
dc.relation.ispartofJournal of Pediatric Neurosciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectNovel mutationen_US
dc.subjectSCN1Aen_US
dc.subjectseizureen_US
dc.titleA novel SCN1A mutation: A case reporten_US
dc.typeArticleen_US

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