Epilepsy in Rett syndrome-Lessons from the Rett networked database
نویسندگان
چکیده
منابع مشابه
Epilepsy in Rett syndrome--lessons from the Rett networked database.
OBJECTIVE Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and midline hand stereotypies. Epilepsy is a core symptom, but literature is controversial regarding genotype-phenotype correlation. Analysis of data from a large cohort should overcome this shortcoming....
متن کاملRett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Rett syndrome (RTT) is a neurodevelopmental disorder with one principal phenotype and several distinct, atypical variants (Zappella, early seizure onset and congenital variants). Mutations in MECP2 are found in most cases of classic RTT but at least two additional genes, CDKL5 and FOXG1, can underlie some (usually variant) cases. There is only limited correlation between genotype and phenotype....
متن کاملTreatment of epilepsy in Rett syndrome.
INTRODUCTION Epilepsy is very frequent in Rett syndrome (RTT) patients and often difficult to treat. Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs. PURPOSE To find the optimal treatment for epilepsy in RTT. METHODS We pe...
متن کاملParental view of epilepsy in Rett Syndrome.
UNLABELLED Few instruments exist to measure the impact of epilepsy on the quality of life in Rett Syndrome (RS). METHODS We attended to describe seizures characteristics, parental opinion and quality of life related in RS by using a newly developed self administered questionnaire, postal sent to parents of French Association for Rett Syndrome (AFSR). RESULTS Two-hundred completed questionna...
متن کاملThe association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.
This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome Behavior Questionnaire (RSBQ) and then examined behavioral patterns as measured by the RSBQ by genetic status. There were 145 Australian cases meeting the criteria for the first arm of the study and 135 for the second arm. Comparison of the scor...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2015
ISSN: 0013-9580
DOI: 10.1111/epi.12941