We reviewed the clinical-neurophysiologic characteristics of 53 patients of two families affected by myoclonic tremor, photosensitivity and epilepsy. Eight family members (3 of family A and 5 of family B) presented "tremulous arousals" in their early infancy. The clinical-neurophysiologic phenotypic expression of the disease was extremely homogeneous among members of the two families. Moreover, both families originated from a small geographic region of southern Italy. Strictly from the clinical point of view, we propose the hypothesis of a founder effect at least for a part of the Italian cases of ADCME. This consideration could stimulate to intensify the efforts for further genetic investigations.
|Translated title of the contribution||A comparative study of two Italian families with ADCME: Possible founder effect?|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - May 2008|
ASJC Scopus subject areas
- Clinical Neurology