Abstract
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 |
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Original language | Italian |
Pages (from-to) | 151-154 |
Number of pages | 4 |
Journal | Bollettino - Lega Italiana contro l'Epilessia |
Issue number | 129-130 |
Publication status | Published - 2005 |
ASJC Scopus subject areas
- Clinical Neurology