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A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

✍ Scribed by Mark A. Corbett; Melanie Bahlo; Lachlan Jolly; Zaid Afawi; Alison E. Gardner; Karen L. Oliver; Stanley Tan; Amy Coffey; John C. Mulley; Leanne M. Dibbens; Walid Simri; Adel Shalata; Sara Kivity; Graeme D. Jackson; Samuel F. Berkovic; Jozef Gecz

Book ID
113422900
Publisher
American Society of Human Genetics
Year
2010
Tongue
English
Weight
618 KB
Volume
87
Category
Article
ISSN
0002-9297

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## Abstract Large‐scale next generation resequencing of X chromosome genes identified a missense mutation in the __CLIC2__ gene on Xq28 in a male with X‐linked intellectual disability (XLID) and not found in healthy individuals. At the same time, numerous nsSNPs (nonsynonomous SNP) have been report