Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR)

Elena Antelmi, Massimo Mastrangelo, Francesca Bisulli, Luigina Spaccini, Carlotta Stipa, Barbara Mostacci, Davide Mei, Renzo Guerrini, Paolo Tinuper

Research output: Contribution to journalArticle

Abstract

Epilepsy and mental retardation limited to females (EFMR) is a genetic disorder that affects females but spares transmitting males. The condition is caused by protocadherin 19 mutations and is characterised by seizures beginning at around 1 year of age, frequently associated with cognitive regression at seizure onset or later. Seizures can be generalised or focal, exacerbated by febrile illnesses, and grouped in clusters. This report shows the first video-EEG recording of EFMR, in a 7-year-old female presenting peculiar ictal features.

Original languageEnglish
Pages (from-to)304-309
Number of pages6
JournalEpileptic Disorders
Volume14
Issue number3
DOIs
Publication statusPublished - Sep 2012

Keywords

  • EEG
  • Epilepsy and mental retardation
  • Ictal fear
  • Protocadherin 19

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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