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].
Antelmi E., Mastrangelo M., Bisulli F., Spaccini L., Stipa C., Mostacci B., et al. (2012). Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR). EPILEPTIC DISORDERS, 14, 304-309 [10.1684/epd.2012.0526].
Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR)
ANTELMI, ELENA;BISULLI, FRANCESCA;STIPA, CARLOTTA;MOSTACCI, BARBARA;TINUPER, PAOLO
2012
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].I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
