![]() ![]() The patients had variably delayed development, mild intellectual disability, and speech/language difficulties. ![]() The patients had onset between ages 6.5 and 11 years of focal dyscognitive or tonic-clonic seizures that remitted in 2 patients by age 11 years. ![]() Coexpression of the mutant protein with wildtype GRIN1 (138249) in COS-7 cells resulted in a shift in NMDA receptor kinetics, with a 4-fold increase in the mean duration of the open state compared to wildtype channels. The mutation was not found in 6,500 control exomes. (2013) identified a heterozygous c.1592C-T transition in the GRIN2A gene, resulting in a thr531-to-met (T531M) substitution at a highly conserved residue in the extracellular ligand-binding domain. In 3 sibs with focal epilepsy and speech disorder (FESD 245570), with the clinical diagnosis of epilepsy-aphasia disorder or continuous spike and waves during slow-wave sleep syndrome, Carvill et al. ![]()
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