Article
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
American journal of human genetics - 10 Sept 2010
Corbett Mark A, Bahlo Melanie, Jolly Lachlan, Afawi Zaid, Gardner Alison E, Oliver Karen L, Tan Stanley, Coffey Amy, Mulley John C, Dibbens Leanne M, Simri Walid, Shalata Adel, Kivity Sara, Jackson Graeme D, Berkovic Samuel F, Gecz Jozef
Abstract excerpt
We characterized an autosomal-recessive syndrome of focal epilepsy, dysarthria, and mild to moderate intellectual disability in a consanguineous Arab-Israeli family associated with subtle cortical thickening. We used multipoint linkage analysis to map the causative mutation to a 3.2 Mb interval within 16p13.3 with a LOD score of 3.86. The linked interval contained 160 genes, many of which were considered to be...
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