良性成人家族性肌阵挛癫痫
Familial adult myoclonic epilepsy
ORPHA:86814疾病
定义 英文原文（暂无中文）
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
别名
常染色体显性遗传性皮质肌阵挛震颤性癫痫
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Japan）
相关基因 8
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CTNND2 | catenin delta 2 | Disease-causing germline mutation(s) in |
| CNTN2 | contactin 2 | Disease-causing germline mutation(s) in |
| ADRA2B | adrenoceptor alpha 2B | Disease-causing germline mutation(s) (gain of function) in |
| SAMD12 | sterile alpha motif domain containing 12 | Disease-causing germline mutation(s) in |
| YEATS2 | YEATS domain containing 2 | Disease-causing germline mutation(s) in |
| MARCHF6 | membrane associated ring-CH-type finger 6 | Disease-causing germline mutation(s) in |
| RAPGEF2 | Rap guanine nucleotide exchange factor 2 | Disease-causing germline mutation(s) in |
| TNRC6A | trinucleotide repeat containing adaptor 6A | Disease-causing germline mutation(s) in |
临床表型 8
极常见 99–80%3
- 脑电图异常 HP:0002353
- 手部震颤 HP:0002378
- 肌阵挛 HP:0001336
常见 79–30%2
- 局灶性发作 HP:0007359
- 全面性发作 HP:0002197
偶见 29–5%3
- 一时性黑蒙 HP:0100576
- 头痛 HP:0002315
- 智力障碍 HP:0001249
外部标识与链接
OrphanetOMIM:601068OMIM:607876OMIM:613608MONDO:0019448ICD-10 G40.3ICD-11 8A61.32ClinicalTrials.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）