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

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 with...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2933342/
https://ncbi.nlm.nih.gov/pubmed/20797691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.08.001
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