Severa epilessia farmaco-resistente con crisi prolungate in paziente con duplicazione in 14q12

Translated title of the contribution: Severe drug resistant epilepsy with prolonged seizures in a patient with duplication in 14q12

F. Deleo, G. Didato, G. Battaglia, R. Spreafico, F. Villani

Research output: Contribution to journalArticle

Abstract

We describe a 23 year-old man with severe epilepsy characterized by prolonged, non convulsive, seizures (usually lasting > 15 minutes). Epilepsy onset was at the age 4 years, and showed immediate drug resistance. The interictal EEG was characterized by high voltage background activity, "excessive spindling" during NREM sleep and both diffuse and focal epileptic abnormalities. Ictal EEG was characterized by high amplitude diffuse fast discharge. Brain MRI was normal. A karyotype analysis excluded the ring 20 syndrome. A whole genome array-CGH analysis showed a duplication in14q12, in a locus of the gene coding for STXBP6. This alteration is not linked to any known human epilepsy. However, this protein is a syntaxin-binding protein that regulates the SNARE Complex, which is involved in the exocytosis at the pre-synaptic plasma membrane, and so may play a role in this patient with epilepsy.

Original languageItalian
Pages (from-to)58-60
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number144
Publication statusPublished - May 2012

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ASJC Scopus subject areas

  • Clinical Neurology

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