Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome

Abstract Objective To determine in MECP2-mutated Rett syndrome (RTT [MIM 312750]): (1) the prevalence of drug-resistant epilepsy (DRE); (2) whether the presence of DRE is related to the abnormal EEG patterns or to the particular MECP2 mutant genotype. Methods Retrospective survey of a large populati...

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Veröffentlicht in:	Clinical neurophysiology 2008-11, Vol.119 (11), p.2455-2458
Hauptverfasser:	Buoni, Sabrina, Zannolli, Raffaella, Felice, Claudio De, Saponari, Simona, Strambi, Mirella, Dotti, Maria Teresa, Castrucci, Elena, Corbini, Letizia, Orsi, Alessandra, Hayek, Joseph
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Child Child, Preschool Drug Resistance Drug-resistant epilepsy EEG pattern Electrodiagnosis. Electric activity recording Electroencephalography - methods Epilepsy - etiology Epilepsy - genetics Female Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Investigative techniques, diagnostic techniques (general aspects) Longitudinal Studies Male MECP2 gene Medical sciences Methyl-CpG-Binding Protein 2 - genetics Mutation Nervous system Nervous system (semeiology, syndromes) Neurology Phenotype Retrospective Studies Rett syndrome Rett Syndrome - complications Rett Syndrome - genetics Young Adult
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