Seizures in Rett syndrome: an overview from a one-year calendar study.

Seizures in Rett syndrome: an overview from a one-year calendar study. Research Abstract Details 

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Seizures in Rett syndrome: an overview from a one-year calendar study. Abstract Text:

Le Jian,Lakshmi Nagarajan,Nicholas de Klerk,David Ravine,John Christodoulou,Helen Leonard,

BACKGROUND: Rett syndrome is a neurodevelopmental disorder mainly affecting females. It is principally caused by mutations in the MECP2 gene. Seizures occur in about 80% of subjects but there has been little research into the factors contributing to their frequency. AIMS: To investigate seizure frequency in Rett syndrome and its relationship with other factors, including genetic characteristics and the use of anti-epileptic drugs. METHODS: Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a calendar year. Age at onset of seizures, developmental history and other clinical and genetic characteristics were obtained from a contemporaneously completed questionnaire and from the Australian Rett Syndrome Database. Negative binomial regression was used to investigate factors associated with seizure rates. RESULTS: Seizure rates were highest in the 7-12 year age group. They were lower in those with p.R294X, p.R255X mutations and C terminal mutations. Those who had early developmental problems and poorer mobility had higher seizure rates as did those with greater clinical severity and poorer functional ability. Many different combinations of medications were being used with carbamazepine, sodium valproate and lamotrigine either singly or in combination with another being the most common. CONCLUSIONS: Seizure frequency in Rett syndrome is age-dependent, more common in those with more severe early developmental problems and influenced by mutation type.

Seizures in Rett syndrome: an overview from a one-year calendar study. Publishing Authors By Initials

L Jian,L Nagarajan,N de Klerk,D Ravine,J Christodoulou,H Leonard,

For similar nervous system diseases: central nervous system diseases: brain diseases: epilepsy: seizures research abstracts see: nervous system diseases: central nervous system diseases: brain diseases: epilepsy: seizures research

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Seizures in Rett syndrome: an overview from a one-year calendar study. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: European journal of paediatric neurology : EJPN :

VOLUME: 11

Page Numbers: 310-7

Journal Abbreviation: Eur. J. Paediatr. Neurol.

ISSN: 1090-3798

DAY: 11

MONTH: 04

YEAR: 2007

Seizures in Rett syndrome: an overview from a one-year calendar study. Information

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LANGUAGE: eng

NlmUniqueID: 9715169

Seizures in Rett syndrome: an overview from a one-year calendar study. Keywords Mesh Terms:

KEYWORDS: Seizures

MESH TERMS: etiology

Chemical & Substance for Abstract: Seizures in Rett syndrome: an overview from a one-year calendar study. Information

Substance Name: Methyl-CpG-Binding Protein 2

Registry Number: 0

Grant and Affiliation Information for Seizures in Rett syndrome: an overview from a one-year calendar study.

AFFILIATION: Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, West Perth, WA 6872, Australia.

Country: England

AGENCY: United States NICHD

GRANT: 1R01 HD 43100-01A1

ACRONYM: HD

MEDLINETA: Eur J Paediatr Neurol

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