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Chapter 34 - Rett syndrome and MECP2 and CDKL5 genotypes

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

By
Daniel G. Glaze
Edited by
Simon D. Shorvon ,
Frederick Andermann  and
Renzo Guerrini
Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
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Summary

Rett syndrome (RTT, MIM 312750) is an X-linked neurodevelopmental disorder which occurs in 1. 09/10,000 females. RTT individuals with R168X, R294X, and C-terminal methyl-CpG-binding protein 2 (MECP2) mutations have been observed to be less likely to have seizure onset before 4 years of age. Partial and generalized seizures are reported to occur in RTT. Video-electroencephalogram (EEG) studies have been performed in RTT individuals with a history of seizures. Early onset of seizures is reported to be linked to the combined MECP2 mutations and brain-derived neurotrophic factor (BDNF) polymorphisms. In addition to efficacy in treatment of seizures and potential side effects, antiepileptic drugs (AEDs) may improve non-epileptic behaviors, such as anxiety and breathing dysrhythmia, commonly observed in RTT. A changing epilepsy phenotype has been described in individuals with X-linked cyclin-dependent kinase-like 5 (CDKL5) mutations. The pathogenesis of epilepsy in CDKL5 mutations may be similar to that of MECP2 mutations.

Keywords

CLN1 geneCLN2 geneneurodegenerative disorderstripeptidyl peptidase 1 deficiencyneuronal ceroid lipofuscinosesseizures
Type
Chapter
Information
The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
 , pp. 242 - 245
Publisher: Cambridge University Press
Print publication year: 2011

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