Article
Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice.
Seizure - 1 Oct 2011
Cardoza Basil, Clarke Angus, Wilcox Jodie, Gibbon Frances, Smith Phil E M, Archer Hayley, Hryniewiecka-Jaworska Anna, Kerr Mike
Abstract excerpt
PURPOSE: To investigate the association between genotype (methyl-CpG-binding protein 2 (MECP2 gene mutation)) and epileptic seizure phenotype in Rett syndrome. METHODS: We used the British Isles Rett syndrome survey to identify 137 subjects with one of the nine most frequent MECP2 gene mutations and invited their parents or carers to participate in a postal questionnaire and telephone interview. The questionnaire...
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