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Chapter 47 - Agenesis of the corpus callosum

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

By
Dorothy Jones-Davis ,
Yolanda Lau  and
Elliott H. Sherr
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

Disrupted formation of the corpus callosum is the second most common central nervous system birth defect, occurring in approximately 1 in 3000 live births. The incidence of epilepsy in patients with agenesis of the corpus callosum (ACC) and its related syndromes ranges from 25% to 62%. Aicardi syndrome is a presumed X-linked syndrome, as it is seen only in females and Klinefelter syndrome (XXY) males. The ARX gene is a homeobox gene that has been shown to be crucial in forebrain, pancreatic, and testicular development. Andermann syndrome, also known as peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN). An autosomal dominant disorder, Mowat-Wilson, is caused by de novo mutations or deletions within the ZFHX1B (ZEB2) gene. Recent work in studying large cohorts of ACC individuals is providing insight into the diversity of causes which lead to ACC, which will provide important insight into mechanisms and outcomes.

Keywords

amino acidbiotinbiotinidase deficiencymitochondrial glutamate transportorganic aciduriasepileptic seizuresmetabolic acidosisperoxisome biogenesis disorderssingle peroxisome enzyme deficienciesZellweger spectrum disorders
Type
Chapter
Information
The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
 , pp. 305 - 310
Publisher: Cambridge University Press
Print publication year: 2011

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