A Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups

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dc.contributor.authorAlan, Serdar
dc.contributor.authorVural, Sevde Nur
dc.contributor.authorAliefendioglu, Didem
dc.contributor.authorSenbil, Nesrin
dc.date.accessioned2025-01-21T16:34:53Z
dc.date.available2025-01-21T16:34:53Z
dc.date.issued2022
dc.departmentKırıkkale Üniversitesi
dc.description.abstractNeonatal epilepsy syndromes are responsible for only 15% of the cases of neonatal seizure. An underlying genetic disorder can be detected in approximately 42% of this subgroup. KCNQ2 gene-associated epilepsies are very rare and more common presentations are self-limited familial neonatal epilepsy (SLFNE) and early infantile epileptic encephalopathies (EIEE). The most common initial seizure semiologies are tonic seizures with or without autonomic symptoms in EIEE resulting from KCNQ2 gene mutation. It is characterized by early neonatal onset seizures with suppression burst pattern on electroencephalogram and typically results in severe developmental delay. Therapeutic options for infants with KCNQ2-related EIEE are limited and there is no consensus about it in the literature. Herein, the neonate with EIEE with unexpected episodes of hiccups due to novel mutation of the KCNQ2 gene, which was reported second time, was presented and antiepileptic treatment strategies were discussed in the light of current literature.
dc.identifier.doi10.7759/cureus.33164
dc.identifier.issn2168-8184
dc.identifier.issue12
dc.identifier.pmid36726904
dc.identifier.urihttps://doi.org/10.7759/cureus.33164
dc.identifier.urihttps://hdl.handle.net/20.500.12587/24025
dc.identifier.volume14
dc.identifier.wosWOS:000924040300030
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherCureus Inc
dc.relation.ispartofCureus Journal of Medical Science
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectnewborn; seizure; kcnq2; gene mutation; neonatal epileptic encephalopathy
dc.titleA Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups
dc.typeArticle

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