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癫痫综合征

Epilepsy syndrome

ORPHA:166463疾病组

相关基因 60来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因名称来源条目
AARS1alanyl-tRNA synthetase 1ORPHA:442835
ACTL6Bactin like 6BORPHA:442835
ADRA2Badrenoceptor alpha 2BORPHA:86814
AP3B2adaptor related protein complex 3 subunit beta 2ORPHA:442835
ATP1A2ATPase Na+/K+ transporting subunit alpha 2ORPHA:442835
ATP1A3ATPase Na+/K+ transporting subunit alpha 3ORPHA:442835
ATP6V1AATPase H+ transporting V1 subunit AORPHA:442835
CACNA1Acalcium voltage-gated channel subunit alpha1 AORPHA:442835
CACNA1Bcalcium voltage-gated channel subunit alpha1 BORPHA:442835
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1ORPHA:442835
CDK19cyclin dependent kinase 19ORPHA:442835
CELF2CUGBP Elav-like family member 2ORPHA:442835
CERS1ceramide synthase 1ORPHA:424027
CHD2chromodomain helicase DNA binding protein 2ORPHA:2382
CLN8CLN8 transmembrane ER and ERGIC proteinORPHA:1947
CLTCclathrin heavy chainORPHA:442835
CNKSR2connector enhancer of kinase suppressor of Ras 2ORPHA:442835
CNTN2contactin 2ORPHA:86814
CSTBcystatin BORPHA:308
CTNND2catenin delta 2ORPHA:86814
CUX2cut like homeobox 2ORPHA:2382
CYFIP2cytoplasmic FMR1 interacting protein 2ORPHA:442835
DALRD3DALR anticodon binding domain containing 3ORPHA:442835
DEPDC5DEP domain containing 5, GATOR1 subcomplex subunitORPHA:442835
DHDDSdehydrodolichyl diphosphate synthase subunitORPHA:442835
DNM1dynamin 1ORPHA:442835
EEF1A2eukaryotic translation elongation factor 1 alpha 2ORPHA:442835
EPM2AEPM2A glucan phosphatase, laforinORPHA:501
FBXO28F-box protein 28ORPHA:442835
FGF12fibroblast growth factor 12ORPHA:442835
FOXG1forkhead box G1ORPHA:442835
FZR1fizzy and cell division cycle 20 related 1ORPHA:442835
GABBR2gamma-aminobutyric acid type B receptor subunit 2ORPHA:442835
GABRA2gamma-aminobutyric acid type A receptor subunit alpha2ORPHA:442835
GABRA5gamma-aminobutyric acid type A receptor subunit alpha5ORPHA:442835
GABRB2gamma-aminobutyric acid type A receptor subunit beta2ORPHA:442835
GABRB3gamma-aminobutyric acid type A receptor subunit beta3ORPHA:2382
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2ORPHA:442835
GOSR2golgi SNAP receptor complex member 2ORPHA:280620
GRIN2Aglutamate ionotropic receptor NMDA type subunit 2AORPHA:98818
GRIN2Dglutamate ionotropic receptor NMDA type subunit 2DORPHA:442835
HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1ORPHA:442835
KCNA2potassium voltage-gated channel subfamily A member 2ORPHA:442835
KCNB1potassium voltage-gated channel subfamily B member 1ORPHA:442835
KCNC1potassium voltage-gated channel subfamily C member 1ORPHA:435438
KCNC2potassium voltage-gated channel subfamily C member 2ORPHA:442835
KCNH5potassium voltage-gated channel subfamily H member 5ORPHA:442835
KCNMA1potassium calcium-activated channel subfamily M alpha 1ORPHA:79137
KCNQ2potassium voltage-gated channel subfamily Q member 2ORPHA:1949
KCNQ3potassium voltage-gated channel subfamily Q member 3ORPHA:1949
KCNT1potassium sodium-activated channel subfamily T member 1ORPHA:293181
KCTD7potassium channel tetramerization domain containing 7ORPHA:263516
LGI1leucine rich glioma inactivated 1ORPHA:101046
LMNB2lamin B2ORPHA:457265
MARCHF6membrane associated ring-CH-type finger 6ORPHA:86814
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2ORPHA:442835
MECP2methyl-CpG binding protein 2ORPHA:209370
MICAL1microtubule associated monooxygenase, calponin and LIM domain containing 1ORPHA:101046
MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5ORPHA:551
MT-TFmitochondrially encoded tRNA-Phe (UUU/C)ORPHA:551

外部标识与链接

OrphanetMONDO:0015650MONDO:15650ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）