Article
Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR).
Epileptic disorders : international epilepsy journal with videotape - 1 Sept 2012
Antelmi Elena, Mastrangelo Massimo, Bisulli Francesca, Spaccini Luigina, Stipa Carlotta, Mostacci Barbara, Mei Davide, Guerrini Renzo, Tinuper Paolo
Abstract excerpt
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...
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