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..

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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.