GRIN2A : An aptly named gene for speech dysfunction

Neurology

Volumn 84, Issue 6, 2015, Pages 586-593

  Turner, Samantha J ^a   Mayes, Angela K ^b   Verhoeven, Andrea ^c   Mandelstam, Simone A ^a,d   Morgan, Angela T ^a,b   Scheffer, Ingrid E ^a,d  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; N-METHYL D-ASPARTATE RECEPTOR SUBTYPE 2A;

ADOLESCENT; ADULT; APHASIA; APRAXIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONSONANT; DYSARTHRIA; EPILEPSY APHASIA SYNDROME; GENE MUTATION; HUMAN; INVOLUNTARY MOVEMENT; MOTOR CONTROL; MOTOR DYSFUNCTION; PHENOTYPE; PRIORITY JOURNAL; ROLANDIC EPILEPSY; SPEECH; SPEECH DISORDER; SPEECH INTELLIGIBILITY; VOWEL; ATAXIC APHASIA; COMPLICATION; EPILEPSY; FEMALE; GENETICS; LANGUAGE DISABILITY; MALE; MIDDLE AGED; MUTATION; PSYCHOMOTOR PERFORMANCE; YOUNG ADULT;

ADOLESCENT; ADULT; APHASIA, BROCA; APRAXIAS; DYSARTHRIA; EPILEPSY; FEMALE; HUMANS; LANGUAGE DISORDERS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PSYCHOMOTOR PERFORMANCE; RECEPTORS, N-METHYL-D-ASPARTATE; SPEECH DISORDERS; SPEECH INTELLIGIBILITY; YOUNG ADULT;

EID: 84923577376     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001228     Document Type: Article

References (30)

1. Tsai MH, Vears DF, Turner SJ, et al. Clinical genetic study of the epilepsy-Aphasia spectrum. Epilepsia 2013; 54:280-287
2. Overvliet GM, Besseling RM, Vles JS, et al. Nocturnal epileptiform EEG discharges, nocturnal epileptic seizures, and language impairments in children: review of the literature. Epilepsy Behav 2010;19:550-558
3. Clarke T, Strug LJ, Murphy PL, et al. High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study. Epilepsia 2007;48:2258-2265
4. Lundberg S, Frylmark A, Eeg-Olofsson O. Children with rolandic epilepsy have abnormalities of oromotor and dichotic listening performance. Dev Med Child Neurol 2005;47:603-608
5. Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Ann Neurol 1995;38:633-642
6. Roll P, Rudolf G, Pereira S, et al. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006;15:1195-1207
7. Kugler SL, Bali B, Lieberman P, et al. An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder. Epilepsia 2008;49:1086-1090
8. Carvill GL, Regan BM, Yendle SC, et al. GRIN2A mutations cause epilepsy-Aphasia spectrum disorders. Nat Genet 2013;45:1073-1076
9. Lesca G, Rudolf G, Bruneau N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet 2013;45:1061-1066
10. Lemke JR, Lal D, Reinthaler EM, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet 2013;45:1067-1072
11. Murdoch BE. Dysarthria: A Physiological Approach to Assessment and Treatment. Cheltenham, UK: Stanley Thornes; 1998
12. Lewis BA, Freebairn L. Residual effects of preschool phonology disorders in grade school, adolescence, and adulthood. J Speech Hear Res 1992;35:819-831
13. Gathercole SE, Baddeley AD. Nonword Memory Test. Bristol, UK: University of Bristol; 1996
14. Dabul BL. Apraxia Battery for Adults, 2nd ed. Austin: PRO-ED; 2000
15. Thoonen G, Maassen B, Wit J, Gabreels F, Schreuder R. The integrated use of maximum performance tasks in differential diagnostic evaluations among children with motor speech disorders. Clin Linguist Phon 1996;10:311-336
16. Duffy JR. Motor Speech Disorders: Substrates, Differential Diagnosis andManagement, 3rd ed. St. Louis: Mosby; 2013
17. Enderby P, Palmer R. Frenchay Dysarthria Assessment, 2nd ed. Austin: PRO-ED; 2008
18. ASHA. Technical Report: Childhood Apraxia of Speech. Available at: www.asha.org/policy/tr2007-00278.htm#sec1.1. Accessed March 12, 2010
19. Semel E, Wiig E, Secord W. Clinical Evaluation of Language Fundamentals, Australian Standardised Edition, 4th ed. Marrickville, Australia: Harcourt Assessment; 2006
20. Dunn LM, Dunn DM. The Peabody Picture Vocabulary Test, 4th ed. Minneapolis: NCS Pearson Inc.; 2007
21. Williams KT. Expressive Vocabulary Test, 2nd ed. London: Pearson Assessment; 2007
22. Bishop DJ. Test for Reception of Grammar, 2nd ed. London: Pearson Assessment; 2003
23. Wechsler D. The Wechsler Abbreviated Scale of Intelligence, 2nd ed. London: Pearson Assessment; 2011
24. Liegeois FJ, Morgan AT. Neural bases of childhood speech disorders: lateralization and plasticity for speech functions during development. Neurosci Biobehav Rev 2012;36:439-458
25. Monyer H, Sprengel R, Schoepfer R, et al. Heteromeric NMDA receptors: molecular and functional distinction of subtypes. Science 1992;256:1217-1221
26. Conti F, Barbaresi P, Melone M, Ducati A. Neuronal and glial localization of NR1 and NR2A/B subunits of the NMDA receptor in the human cerebral cortex. Cereb Cortex 1999;9:110-120
27. Kornau HC, Schenker LT, Kennedy MB, Seeburg PH. Domain interaction between NMDA receptor subunits and the postsynaptic density protein PSD-95. Science 1995;269:1737-1740
28. Kendrick SJ, Lynch DR, Pritchett DB. Characterization of glutamate binding sites in receptors assembled from transfected NMDA receptor subunits. J Neurochem 1996;67: 608-616
29. Dalmau J, Gleichman AJ, Hughes EG, et al. Anti-NMDAreceptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol 2008;7:1091-1098
30. Sprengel R, Suchanek B, Amico C, et al. Importance of the intracellular domain of NR2 subunits for NMDA receptor function in vivo. Cell 1998;92:279-289