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

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

DOI: 10.1212/WNL.0000000000001228

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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University of Melbourne Researchers

Simone Mandelstam Author Radiology

Ingrid Scheffer Author Medicine - Austin Health

Angela Morgan Author Audiology and Speech Pathology

Related Projects (4)

EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discove..

EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discove..

GENETICS OF EPILEPSY

Professor Scheffer and her collaborators lead the world in the discovery of the genetic causes of epilepsy. She will continue to identify ne..

Elucidating the neural pathways and genetic basis of speech

The project will elucidate the biological basis of speech, a unique feature of the human condition. The project will do this by i) discoveri..

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.