GRIN2A

Publications

Endele S et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010;42(11):1021-6. PMID: 20890276.

Lemke JR et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013;45(9):1067-72. PMID: 23933819.

Pierson TM et al. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol. 2014;1(3):190-198. PMID: 24839611.

Turner SJ et al. GRIN2A: an aptly named gene for speech dysfunction. Neurology. 2015;84(6):586-93. PMID: 25596506.

Strehlow V et al. GRIN2A-related disorders: genotype and functional consequence predict phenotype. Brain. 2019;142(1):80-92. PMID: 30544257.