Medical Knowledge Cockpit epilepsy, focal, with speech disorder and with or without mental retardation

GRIN2A

• Caffeine interaction with glutamate receptor gene GRIN2A: Parkinson's disease in Swedish population
• Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation
• CaMKII-dependent phosphorylation regulates SAP97/NR2A interaction
• Binding of neuroligins to PSD-95
• Selectivity and promiscuity of the first and second PDZ domains of PSD-95 and synapse-associated protein 102

GRIN2A

Somatic tumors

melanoma, colorectal carcinoma, gastric carcinoma, lung carcinoma

Tumor types germline

Cancer Syndrom

Translocation partner

Name

glutamate receptor, ionotropic, N-methyl D-aspartate 2A

Chromosome banding

16p13.2

Cancer molecular gen.

Rec

Mutation type

Mis, N, F, O

Other syndrome disease

Focal epilepsy and speech disorder with or without mental retardation