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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00749 | Episodic ataxias | Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the ... | Nervous system disease |
(EA1) KCNA1 [HSA:3736] [KO:K04874] (EA2) CACNA1A [HSA:773] [KO:K04344] (EA5) CACNB4 [HSA:785] [KO:K04865] (EA6) SLC1A3 [HSA:6507] [KO:K05614] (EA9) SCN2A [HSA:6326] [KO:K04834] |
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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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