Ketogenic diet as a successful early treatment modality for SCN2A mutation


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Türkdoğan D. , Thomas G., Demirel B.

BRAIN & DEVELOPMENT, cilt.41, ss.389-391, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

SCN2A 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.