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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00783 | Febrile seizures | ... responsible for FS. Furthermore, mutations in the voltage-gated sodium channel subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor subunit genes (GABRG2 and GABRD) have been identified in GEFS+. | Nervous system disease |
(FEB2) HCN2 [HSA:610] [KO:K04955] (FEB3) SCN1A [HSA:6323] [KO:K04833] (FEB4) ADGRV1 [HSA:84059] [KO:K18263] (FEB8) GABRG2 [HSA:2566] [KO:K05186] (FEB11) CPA6 [HSA:57094] [KO:K08782] |
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| H00808 | Idiopathic generalized epilepsies | Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence ... | Nervous system disease |
(EIG6) CACNA1H [HSA:8912] [KO:K04855] (EIG8) CASR [HSA:846] [KO:K04612] (EIG9) CACNB4 [HSA:785] [KO:K04865] (EIG10) GABRD [HSA:2563] [KO:K05184] (EIG11) CLCN2 [HSA:1181] [KO:K05011] (EIG12) SLC2A1 [HSA:6513] [KO:K07299] (EIG13) GABRA1 [HSA:2554] [KO:K05175] (EIG14) SLC12A5 [HSA:57468] [KO:K23967] (EIG15) RORB [HSA:6096] [KO:K08533] (EIG16) KCNMA1 [HSA:3778] [KO:K04936] (EIG18) HCN4 [HSA:10021] [KO:K04957] |
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| H02217 | Juvenile myoclonic epilepsy | Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks ... | Nervous system disease |
(EJM1) EFHC1 [HSA:114327] [KO:K23029] (EJM5) GABRA1 [HSA:2554] [KO:K05175] (EJM6) CACNB4 [HSA:785] [KO:K04865] (EJM7) GABRD [HSA:2563] [KO:K05184] (EJM8) CLCN2 [HSA:1181] [KO:K05011] (EJM10) ICK [HSA:22858] [KO:K08828] |
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| 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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