SCN1A is one of the most important genes in the genetics of epilepsy and more than 500 mutations have been identified to date. The phenotype includes different epileptic syndromes, SMEI (Severe myoclonic epilepsy of infancy) being the most severe. The term "borderline" SMEI has been used to designate patients in whom myoclonic and absence seizures are not present, as well as generalized spike and wave activity and severe cognitive decline. We report the case of an 8-year-old boy with SCN1A truncating mutation and focal motor seizures stopped by DZP. Seizures were not always associated with fever and poorly controlled by antiepileptic drugs. The EEG disclosed right parietal paroxysmal anomalies and the boy did not showed a severe cognitive decline in subsequent neuropsicological evaluations. These atypical clinical features, associated with SCN1A mutation usually linked to SMEI, support the hypothesis that a combination of environmental and genetic factors determine the phenotype in these patients.
|Translated title of the contribution||Phenotipic variability of SCN1A mutations: Case report|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2013|
ASJC Scopus subject areas
- Clinical Neurology