John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR) Volume 14, numéro 3, September 2012

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

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Auteurs
IRCCS, Institute of Neurological Sciences, Department of Neurological Sciences, University of Bologna, Bologna, Pediatric Neurology Unit, V Buzzi Hospital, AO ICP, Milan, Paediatric Neurology Unit and Laboratories, A Meyer Children's Hospital, University of Florence, Florence, Italy
  • Mots-clés : epilepsy and mental retardation, EEG, protocadherin 19, ictal fear
  • DOI : 10.1684/epd.2012.0526
  • Page(s) : 304-9
  • Année de parution : 2012

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. [ Published with video sequences]