We investigate 10 families coming from three Epilepsy Center with electroclinical features suggesting of familial mesial temporal lobe epilepsy (FTLE). Methods. Clinical data, neurological examination, EEG and neuroimaging information were available for 20 affected members. Genetic analysis of Epitempin gene was also performed. Results. We classified our families in 3 groups: 1) absence of febrile seizures (FS) and hippocampal sclerosis (HS) (5 families); 2) presence of FS and HS (1 families); 3) presence of FS but no HS (4 families). Genetic study did not reveal Epitempin mutations in all cases (1). Discussion, FMTLE is a relatively common condition that is clinically and genetically different form FLTE. It may be associated to a not invariably favourable outcome, expecially in those cases with HS. Further investigation is needed in order to clarify if the type of aura may address genetic studies in these families.
|Translated title of the contribution||Clinical study on 10 Italian families with familial mesial temporal lobe epilepsy|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 2005|
ASJC Scopus subject areas
- Clinical Neurology