Epilepsy in Retts syndrome: a study of the association between phenotype and genotype [Abstract]

Kerr, Michael Patrick, Cardoza, Basil, Wilcox, Jodie, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Gibbon, Francis and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2008. Epilepsy in Retts syndrome: a study of the association between phenotype and genotype [Abstract]. Journal of Intellectual Disability Research 52 (8-9) , p. 658. 10.1111/j.1365-2788.2008.01084.x

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Abstract

Aim: Rett syndrome, a neurodevelopmental disorder mostly affecting females, is caused by mutations in the MECP2 gene. Seizures have been reported in more than 80% of subjects, as have breath holding episodes, which may resemble seizures. The aim of the study is to determine the type and frequency of seizures in Rett syndrome and their association with the type of MECP2 gene mutation. Method: Information was obtained from the UK Rett syndrome database, of subjects who had been identified as having a mutation in the MECP gene. 137 subjects were selected from this as having the 9 most common types of mutation. A questionnaire was designed to record detailed information about seizures and breath holding. Interviews were conducted by two investigators and seizure type identified by three experienced epileptologists. Results and conclusions: 91 patients responded giving a response rate of 66%. The ages of subjects ranged from 5 to 43 years and the average age was 17 years. 74% of subjects had been given a previous diagnosis of epilepsy according to their families. Data will be presented on seizure type/percent of breath holding and the association between seizure and mutation type

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Neuroscience and Mental Health Research Institute (NMHRI) Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Additional Information:	Special Issue: People with Intellectual Disabilities: Citizens in the World Symposium: Behavioural Phenotypes in Retts, Down & Foetal Alcohol Syndromes
Publisher:	Blackwell Publishing
ISSN:	0964-2633
Last Modified:	25 Nov 2023 02:05
URI:	https://orca.cardiff.ac.uk/id/eprint/17576

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