青少年肌阵挛性癫痫
Juvenile myoclonic epilepsy
ORPHA:307疾病
定义 英文原文（暂无中文）
A rare epilepsy syndrome characterized by adolescence/young adulthood onset of myoclonic with or without other generalized seizure types in an otherwise healthy individual. The electroencephalogram (EEG) shows 3-5.5 Hz generalized spike-waves and polyspike-waves. Photosensitivity is common.
别名
少年肌阵挛性癫痫
基本事实
- 遗传方式
- 多基因/多因素
- 发病年龄
- 青少年期、儿童期
- 患病率
- 1-9 / 100 000（Norway）
相关基因 8
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CACNB4 | calcium voltage-gated channel auxiliary subunit beta 4 | Major susceptibility factor in |
| EFHC1 | EF-hand domain containing 1 | Major susceptibility factor in |
| GABRA1 | gamma-aminobutyric acid type A receptor subunit alpha1 | Major susceptibility factor in |
| GABRD | gamma-aminobutyric acid type A receptor subunit delta | Major susceptibility factor in |
| KCNQ3 | potassium voltage-gated channel subfamily Q member 3 | Major susceptibility factor in |
| JRK | Jrk helix-turn-helix protein | Candidate gene tested in |
| CILK1 | ciliogenesis associated kinase 1 | Major susceptibility factor in |
| CLCN2 | chloride voltage-gated channel 2 | Major susceptibility factor in |
临床表型 11
极常见 99–80%3
- 脑电图，伴多棘慢复合波 HP:0002392
- 全面性发作 HP:0002197
- 早晨肌阵挛样抽动 HP:0007000
常见 79–30%2
- 眼球运动异常 HP:0000496
- 嘴部异常 HP:0000153
偶见 29–5%3
- 高热惊厥(年龄在3个月至6岁之间) HP:0002373
- 失神发作 HP:0002121
- 光敏性强直阵挛发作 HP:0007207
罕见 <4–1%2
- 攻击性行为 HP:0000718
- 癫痫持续状态 HP:0002133
排除 0%1
- 智力障碍 HP:0001249
外部标识与链接
OrphanetOMIM:254770OMIM:604827OMIM:607628MONDO:0009696GARD:6808ICD-10 G40.3ICD-11 8A61.30ClinicalTrials.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）