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Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: A case report
Author(s) -
STEFANAKI EVANGELIA,
AGGELAKOU VASILIKI,
ORFANOU M.,
KOKORI E.,
BOUTOUFIANAKIS S.
Publication year - 2006
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1080/08035250600778628
Subject(s) - missense mutation , medicine , sodium channel , mutation , genetics , protein subunit , sodium , gene , biology , chemistry , organic chemistry
Most epilepsies are characterized as “idiopathic” because of the lack of a known cause. Nevertheless, recently, there has been significant progress in the molecular genetics of idiopathic epilepsy. Mutations in gene‐encoding ion channels were found to be the underlying disorder in all idiopathic epilepsies with a known molecular basis. Missense mutations in the voltage‐gated sodium channel a1 subunit gene ( SCN1A ) were firstly identified in patients with generalized epilepsy with febrile seizures plus additional symptoms (GEFS+). Subsequently, mutations of SCN1A were also found in patients with severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome, and in patients with borderline SMEI (SMEB), a milder form of Dravet syndrome. We describe a case of a new missense de novo mutation of SCN1A in a child with the clinical features of borderline SMEI syndrome.