Article
Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.
Neurobiology of disease - 1 Sept 2017
Jackson Matilda R, Lee Kristie, Mattiske Tessa, Jaehne Emily J, Ozturk Ezgi, Baune Bernhard T, O'Brien Terence J, Jones Nigel, Shoubridge Cheryl
Abstract excerpt
The Aristaless-related homeobox gene (ARX) is a known intellectual disability (ID) gene that frequently presents with X-linked infantile spasm syndrome as a comorbidity. ID with epilepsy in children is a chronic and devastating disorder that has poor treatment options and disease outcomes. To gain a better understanding of the role that mutations in ARX play in ID and epilepsy, we investigate ARX patient...
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