Human N-methyl-D-aspartate receptor modulatory subunit hNR2A
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.Endele S., Rosenberger G., Geider K., Popp B., Tamer C., Stefanova I., Milh M., Kortum F., Fritsch A., Pientka F.K., Hellenbroich Y., Kalscheuer V.M., Kohlhase J., Moog U., Rappold G., Rauch A., Ropers H.H., von Spiczak S., Tonnies H., Villeneuve N., Villard L., Zabel B., Zenker M., Laube B., Reis A., Wieczorek D., Van Maldergem L., Kutsche K.Nat. Genet. 42:1021-1026(2010)
Exome sequencing identifies GRIN2A as frequently mutated in melanoma.Wei X., Walia V., Lin J.C., Teer J.K., Prickett T.D., Gartner J., Davis S., Stemke-Hale K., Davies M.A., Gershenwald J.E., Robinson W., Robinson S., Rosenberg S.A., Samuels Y.Nat. Genet. 43:442-446(2011)
Diagnostic exome sequencing in persons with severe intellectual disability.de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.N. Engl. J. Med. 367:1921-1929(2012)
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.Lesca G., Rudolf G., Bruneau N., Lozovaya N., Labalme A., Boutry-Kryza N., Salmi M., Tsintsadze T., Addis L., Motte J., Wright S., Tsintsadze V., Michel A., Doummar D., Lascelles K., Strug L., Waters P., de Bellescize J., Vrielynck P., de Saint Martin A., Ville D., Ryvlin P., Arzimanoglou A., Hirsch E., Vincent A., Pal D., Burnashev N., Sanlaville D., Szepetowski P.Nat. Genet. 45:1061-1066(2013)
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.Lemke J.R., Lal D., Reinthaler E.M., Steiner I., Nothnagel M., Alber M., Geider K., Laube B., Schwake M., Finsterwalder K., Franke A., Schilhabel M., Jahn J.A., Muhle H., Boor R., Van Paesschen W., Caraballo R., Fejerman N., Weckhuysen S., De Jonghe P., Larsen J., Moller R.S., Hjalgrim H., Addis L., Tang S., Hughes E., Pal D.K., Veri K., Vaher U., Talvik T., Dimova P., Guerrero Lopez R., Serratosa J.M., Linnankivi T., Lehesjoki A.E., Ruf S., Wolff M., Buerki S., Wohlrab G., Kroell J., Datta A.N., Fiedler B., Kurlemann G., Kluger G., Hahn A., Haberlandt D.E., Kutzer C., Sperner J., Becker F., Weber Y.G., Feucht M., Steinbock H., Neophythou B., Ronen G.M., Gruber-Sedlmayr U., Geldner J., Harvey R.J., Hoffmann P., Herms S., Altmuller J., Toliat M.R., Thiele H., Nurnberg P., Wilhelm C., Stephani U., Helbig I., Lerche H., Zimprich F., Neubauer B.A., Biskup S., von Spiczak S.Nat. Genet. 45:1067-1072(2013)
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.Carvill G.L., Regan B.M., Yendle S.C., O'Roak B.J., Lozovaya N., Bruneau N., Burnashev N., Khan A., Cook J., Geraghty E., Sadleir L.G., Turner S.J., Tsai M.H., Webster R., Ouvrier R., Damiano J.A., Berkovic S.F., Shendure J., Hildebrand M.S., Szepetowski P., Scheffer I.E., Mefford H.C.Nat. Genet. 45:1073-1076(2013)
Evidence that GRIN2A mutations in melanoma correlate with decreased survival.D'mello S.A., Flanagan J.U., Green T.N., Leung E.Y., Askarian-Amiri M.E., Joseph W.R., McCrystal M.R., Isaacs R.J., Shaw J.H., Furneaux C.E., During M.J., Finlay G.J., Baguley B.C., Kalev-Zylinska M.L.Front. Oncol. 3:333-333(2014)
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.FORGE Canada ConsortiumVenkateswaran S., Myers K.A., Smith A.C., Beaulieu C.L., Schwartzentruber J.A., Majewski J., Bulman D., Boycott K.M., Dyment D.A.Epilepsia 55:E75-E79(2014)
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.Yuan H., Hansen K.B., Zhang J., Pierson T.M., Markello T.C., Fajardo K.V., Holloman C.M., Golas G., Adams D.R., Boerkoel C.F., Gahl W.A., Traynelis S.F.Nat. Commun. 5:3251-3251(2014)