We report a 17 year-old woman, with Juvenile Myoclonic Epilepsy (JME) and family history positive for epilepsy and febrile seizures in maternal line, who presented central-temporal spikes on the right hemisphere, activated during sleep, in addition to the typical interictal and ictal generalized paroxysmal abnormalities. Brain MRI was normal and seizures were controlled by valproate and lamotrigine. A molecular genetic study lead to the identification of a polymorphism (a->g) in position 10 in the intron 3 (rs949626) of the EFHC1 gene, and a polymorphism (T->C) of the hexon 4 of the GABRA1 gene without amino acid exchange. This is, to our knowledge, the first reported case of JME with focal EEG paroxysmal abnormalities, with mutations of genes EFHC1 and GABRA1.
|Translated title of the contribution||Abnormalities in juvenile myoclonic epilepsy: A case report with molecular genetic analysis|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Jul 2006|
ASJC Scopus subject areas
- Clinical Neurology