Epilessia mioclonica giovanile ed EEG focale: Descrizione di un caso con studio genetico-molecolare

Translated title of the contribution: Abnormalities in juvenile myoclonic epilepsy: A case report with molecular genetic analysis

A. Bartocci, M. Elia, F. Calì, C. Tiacci, A. T. Cantisani, G. Perticoni

Research output: Contribution to journalArticle

Abstract

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 contributionAbnormalities in juvenile myoclonic epilepsy: A case report with molecular genetic analysis
Original languageItalian
Pages (from-to)159-161
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number133-134
Publication statusPublished - Jul 2006

ASJC Scopus subject areas

  • Clinical Neurology

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