From: Gene variations of glutamate metabolism pathway and epilepsy
Pathway | Gene name | Phenotype | Inheritance | Treatment | Prognosis |
---|---|---|---|---|---|
Glutamate synthesis | GLS | DEE71, DD, ataxia | AR, AD | Unknown | DRE, DD |
GLUD1 | Hyperinsulinism-hyperammonemia syndrome | AD | diazoxide, ASM (LEV, ZNS) | DRE, DD | |
Glutamate transport | SLC1A2 | DEE41 | AD | EAAT2 translation, ketogenic diet | Unknown |
EAAT1, 3, 4, 5 | Â | Â | Â | Â | |
Glutamate receptors | GRIN1 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures | AD, AR | ASM (VGB, VPA, TPM, LEV, CBZ, CZP) | DRE, DD |
GRIN2A | Focal epilepsy with speech disorder, intellectual disability | AD | MAT, ASM (TPM, CBZ, FBM, LEV) | DRE, DD | |
GRIN2B | DEE27, intellectual disability | AD | MAT, OXC | DRE, DD | |
GRIN2D | DEE46 | AD | MAT, intravenous immunoglobulin, oral steroids, and magnesium | DRE, DD | |
GRIA2 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | AD | AMPA receptor inhibitors (perampanel) | Unknown | |
GRIA4 | Neurodevelopmental disorder with or without seizures and gait abnormalities | AD | Unknown | Unknown | |
GRM7 | Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities | AR | PAM | DRE, DD | |
Glutamate metabolism | GLUL | Glutamine deficiency | AR | Glutamine | Effective drug control |