Journal article
GRIN2A An aptly named gene for speech dysfunction
Samantha J Turner, Angela K Mayes, Andrea Verhoeven, Simone A Mandelstam, Angela T Morgan, Ingrid E Scheffer
NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2015
Abstract
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. RESULTS: Individuals showed a characteristic phenotype of dysarthria and dyspraxia with lifelong impact on speech intelligibility in some. Speech was typified by imprecise articulation (11/11, 100%), impaired pitch (monopitch 10/11, 91%) and prosody (stress errors 7/11, 64%), and hyperna..
View full abstractRelated Projects (4)
Grants
Awarded by National Health and Medical Research Council (NHMRC) Postgraduate Scholarship
Awarded by NHMRC Career Development Award
Awarded by NHMRC Program Grant
Awarded by NHMRC Practitioner Fellowship
Awarded by Australian Research Council (ARC) Discovery Project
Funding Acknowledgements
S.J.T. is supported by a National Health and Medical Research Council (NHMRC) Postgraduate Scholarship (101777) and Speech Pathology Australia Nadia Verrall Memorial Research Grant. A.T.M. is supported by an NHMRC Career Development Award (607315). I.E.S. is supported by an NHMRC Program Grant (628952) and Practitioner Fellowship (1006110). This project was also supported by an Australian Research Council (ARC) Discovery Project (DP120100285) to A.T.M. and I.E.S.