Ketogenic diet as a successful early treatment modality for SCN2A mutation

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dc.authoridSozuer, Dilsad/0000-0002-6607-5860
dc.authorwosidTürkdoğan, Dilşad/HJZ-4584-2023
dc.contributor.authorTurkdogan, Dilsad
dc.contributor.authorThomas, Gulten
dc.contributor.authorDemirel, Birsen
dc.date.accessioned2024-07-18T20:42:30Z
dc.date.available2024-07-18T20:42:30Z
dc.date.issued2019
dc.departmentİstanbul Bilgi Üniversitesien_US
dc.description.abstractSCN2A mutations have been described in a very broad spectrum of clinical phenotypes including benign (familial) neonatal/ infantile seizures and early infantile epileptic encephalopathies (EIEE) as Ohtahara syndrome (OS), Dravet syndrome (DS), epilepsy of infancy with migrating focal seizures and West syndrome (WS). Treatment modalities for epilepsy caused by SCN2A mutations mainly consist of sodium channel blockers but ketogenic diet (KD) is also considered as an option of treatment for intractible seizures caused by SCN2A mutations. Because of the wide nature of the heterogeneity of mutations related to SCN2A gene, the clinical phenotypes vary in severity and treatment response to KD has been reported to be controversial. We present a patient diagnosed with OS associated with a novel SCN2A mutation (c.408G > A, p.Met136lle; OMIM (R): 182390) who had a complete resolution of seizures and EEG abnormalities with KD commenced at 39 days of age. As far as we are aware our case is the youngest patient with SCN2A mutation treated with KD with complete resolution of epilepsy at an early age and has been seizure free of antiepileptic medications for a long duration. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.braindev.2018.10.015
dc.identifier.endpage391en_US
dc.identifier.issn0387-7604
dc.identifier.issn1872-7131
dc.identifier.issue4en_US
dc.identifier.pmid30415926en_US
dc.identifier.startpage389en_US
dc.identifier.urihttps://doi.org/10.1016/j.braindev.2018.10.015
dc.identifier.urihttps://hdl.handle.net/11411/7297
dc.identifier.volume41en_US
dc.identifier.wosWOS:000464089900012en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofBrain & Developmenten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectScn2a Mutationen_US
dc.subjectIntractible Seizuresen_US
dc.subjectKetogenic Dieten_US
dc.subjectEpilepsyen_US
dc.titleKetogenic diet as a successful early treatment modality for SCN2A mutation
dc.typeArticle

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