title: Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR).
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. [Published with video sequences].
authors.affiliation: IRCCS, Institute of Neurological Sciences, Department of Neurological Sciences, University of Bologna, Bologna.
authors.forename: Elena
authors.initials: E
authors.lastname: Antelmi
authors.forename: Massimo
authors.initials: M
authors.lastname: Mastrangelo
authors.forename: Francesca
authors.initials: F
authors.lastname: Bisulli
authors.forename: Luigina
authors.initials: L
authors.lastname: Spaccini
authors.forename: Carlotta
authors.initials: C
authors.lastname: Stipa
authors.forename: Barbara
authors.initials: B
authors.lastname: Mostacci
authors.forename: Davide
authors.initials: D
authors.lastname: Mei
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.forename: Paolo
authors.initials: P
authors.lastname: Tinuper
mesh_terms: D004569:Electroencephalography; D004827:Epilepsy; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D009154:Mutation; D012640:Seizures; D020521:Stroke