We describe a patient affected by severe myoclonic epilepsy in infancy (SMEI) with a new de novo truncating SCN1A mutation. EEG features of this patients are compared with those of two other SMEI patients carrying different SCN1A mutations (one truncating, the other missense).
|Translated title of the contribution||A new SCN1A mutation in a patient affected by severe myoclonic epilepsy of infancy|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 2005|
ASJC Scopus subject areas
- Clinical Neurology