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NMDA receptor NR1 subtype (GRIN1; NR1); GRIN2B (NR2B); GABAA receptor a1 (GABRA1); GABAA receptor b3 (GABRB3)

Human genome sequencing studies suggest modulating GABAA receptors and NMDARs could help treat some patients with pediatric epilepsy. Exome sequencing of 264 patients with infantile spasms and Lennox-Gastaut syndrome and their parents identified de novo mutations in a variety of genes including GABRB3, GABRA1, NR1 and NR2B. Next steps include characterizing the effects of these mutations on GABAA receptor and NMDAR function in cell culture and testing pharmacological agents that modulate receptor activity.
H. Lundbeck A/S markets Onfi clobazam, a GABAA receptor agonist, to treat Lennox-Gastaut syndrome.

SciBX 6(38); doi:10.1038/scibx.2013.1068
Published online Oct. 3, 2013

Unpatented; licensing status not applicable

Epi4K Consortium & Epilepsy Phenome/Genome Project. Nature; published online Aug. 11, 2013;
Contact: David B. Goldstein, Duke University, Durham, N.C.