婴儿期恶性迁移性灶性癫痫
Epilepsy of infancy with migrating focal seizures
ORPHA:293181疾病
定义
一种罕见的遗传性新生儿癫痫综合征，特征是在生后前6个月内持续的移行性多形局灶性癫痫发作，并伴相应的多灶性发作性脑电放电，精神运动发育逐渐恶化，常早期死亡。
别名
婴儿期恶性迁移性灶性惊厥
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 9
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SCN1A | sodium voltage-gated channel alpha subunit 1 | Disease-causing germline mutation(s) in |
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) in |
| SLC25A22 | solute carrier family 25 member 22 | Disease-causing germline mutation(s) in |
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | Disease-causing germline mutation(s) in |
| PIGA | phosphatidylinositol glycan anchor biosynthesis class A | Disease-causing germline mutation(s) in |
| TBC1D24 | TBC1 domain family member 24 | Disease-causing germline mutation(s) (loss of function) in |
| PLCB1 | phospholipase C beta 1 | Disease-causing germline mutation(s) in |
| KCNT1 | potassium sodium-activated channel subfamily T member 1 | Disease-causing germline mutation(s) (gain of function) in |
| SLC12A5 | solute carrier family 12 member 5 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 25
极常见 99–80%6
- 认知功能损害 HP:0100543
- 发育倒退 HP:0002376
- 功能性运动障碍 HP:0004302
- 行走不能 HP:0002540
- 多灶性痫样放电 HP:0010841
- 神经发育延迟 HP:0012758
常见 79–30%9
- 双侧强直- 阵挛发作 HP:0002069
- 双侧强直阵挛发作 HP:0007334
- 脑萎缩 HP:0002059
- 伴大笑的局灶情绪性发作 HP:0010821
- 局灶性偏侧阵挛发作 HP:0006813
- 知觉受损的局灶性发作 HP:0002384
- 肌张力减退 HP:0001252
- 小头畸形 HP:0000252
- 肌阵挛发作 HP:0032794
偶见 29–5%9
- 胼胝体形态异常 HP:0001273
- 主肺动脉的侧支动脉 HP:0031834
- 髓鞘化延迟 HP:0012448
- 癫痫性痉挛 HP:0011097
- 发育迟滞 HP:0001508
- 肌张力增高 HP:0001276
- 高度失律 HP:0002521
- 脊柱侧弯 HP:0002650
- 视觉障碍 HP:0000505
罕见 <4–1%1
- 性早熟 HP:0000826
外部标识与链接
OrphanetOMIM:613722OMIM:614959OMIM:615338MONDO:0017385GARD:12919ICD-10 G40.0ICD-11 8A61.12ClinicalTrials.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）