儿童早发型癫痫综合征
Childhood-onset epilepsy syndrome
ORPHA:98259疾病组
相关基因 19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 |
|---|---|---|
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | ORPHA:2382 |
| CHD2 | chromodomain helicase DNA binding protein 2 | ORPHA:2382 |
| CUX2 | cut like homeobox 2 | ORPHA:2382 |
| DEPDC5 | DEP domain containing 5, GATOR1 subcomplex subunit | ORPHA:98820 |
| DNM1 | dynamin 1 | ORPHA:2382 |
| GABRB3 | gamma-aminobutyric acid type A receptor subunit beta3 | ORPHA:2382 |
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma2 | ORPHA:1945 |
| GRIN2A | glutamate ionotropic receptor NMDA type subunit 2A | ORPHA:98818 |
| KCNMA1 | potassium calcium-activated channel subfamily M alpha 1 | ORPHA:79137 |
| LGI1 | leucine rich glioma inactivated 1 | ORPHA:101046 |
| MICAL1 | microtubule associated monooxygenase, calponin and LIM domain containing 1 | ORPHA:101046 |
| NPRL2 | NPR2 like, GATOR1 complex subunit | ORPHA:98820 |
| NPRL3 | NPR3 like, GATOR1 complex subunit | ORPHA:98820 |
| RELN | reelin | ORPHA:101046 |
| SCN1A | sodium voltage-gated channel alpha subunit 1 | ORPHA:2382 |
| SCN3A | sodium voltage-gated channel alpha subunit 3 | ORPHA:98820 |
| SLC2A1 | solute carrier family 2 member 1 | ORPHA:86911 |
| SRPX2 | sushi repeat containing protein X-linked 2 | ORPHA:163721 |
| TBC1D24 | TBC1 domain family member 24 | ORPHA:163727 |
外部标识与链接
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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）