We describe the case of a child with a de novo missense mutation in the "pore region" - α subunit of SCN1A (brain voltage gated sodium channel α1 subunit gene). The neurological and EEG evolution shows a clinical situation in between GEFS + and SMEI, that could be better termed as Autosomal Dominant Epilepsy with Febrile Seizures Plus (ADEFS+) (1) or Severe Myoclonic Epilepsy Borderline (SMEI Borderline).
|Translated title of the contribution||De novo missense mutation in SCN1A: A case report of GEFS plus with good prognosis|
|Number of pages||4|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 2005|
ASJC Scopus subject areas
- Clinical Neurology