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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02564 | Generalized epilepsy with febrile seizures plus | Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor ... | Nervous system disease |
(GEFSP1) SCN1B [HSA:6324] [KO:K04845] (GEFSP2) SCN1A [HSA:6323] [KO:K04833] (GEFSP3) GABRG2 [HSA:2566] [KO:K05186] (GEFSP5) GABRD [HSA:2563] [KO:K05184] (GEFSP9) STX1B [HSA:112755] [KO:K08486] (GEFSP10) HCN1 [HSA:348980] [KO:K04954] (GEFSP11) HCN2 [HSA:610] [KO:K04955] (GEFSP12) SLC32A1 [HSA:140679] [KO:K15015] |
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