Article
GRIN2A: an aptly named gene for speech dysfunction.
Neurology - 10 Feb 2015
Turner Samantha J, Mayes Angela K, Verhoeven Andrea, Mandelstam Simone A, Morgan Angela T, Scheffer Ingrid E
Abstract excerpt
OBJECTIVE: To delineate the specific speech deficits in individuals with epilepsy-aphasia syndromes associated with mutations in the glutamate receptor subunit gene GRIN2A. METHODS: We analyzed the speech phenotype associated with GRIN2A mutations in 11 individuals, aged 16 to 64 years, from 3 families. Standardized clinical speech assessments and perceptual analyses of conversational samples were conducted....
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