早期幼儿癫痫性脑病
Early infantile developmental and epileptic encephalopathy
ORPHA:1934疾病
定义 英文原文（暂无中文）
A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.
别名
早期婴儿癫痫性脑病伴抑制-爆发
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用、X 连锁隐性
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 100 000（Japan）
相关基因 21
| 基因 | 名称 | 关联类型 |
|---|---|---|
| LGI1 | leucine rich glioma inactivated 1 | Disease-causing germline mutation(s) in |
| SCN1B | sodium voltage-gated channel beta subunit 1 | Disease-causing germline mutation(s) in |
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) (gain of function) in |
| SLC25A22 | solute carrier family 25 member 22 | Disease-causing germline mutation(s) in |
| CDKL5 | cyclin dependent kinase like 5 | Disease-causing germline mutation(s) in |
| ARX | aristaless related homeobox | Disease-causing germline mutation(s) in |
| KCNA1 | potassium voltage-gated channel subfamily A member 1 | Disease-causing germline mutation(s) in |
| CASK | calcium/calmodulin dependent serine protein kinase | Disease-causing germline mutation(s) (loss of function) in |
| PNKP | polynucleotide kinase 3'-phosphatase | Disease-causing germline mutation(s) in |
| GRIN1 | glutamate ionotropic receptor NMDA type subunit 1 | Disease-causing germline mutation(s) (loss of function) in |
| GNAO1 | G protein subunit alpha o1 | Disease-causing germline mutation(s) in |
| PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | Disease-causing germline mutation(s) (loss of function) in |
| SIK1 | salt inducible kinase 1 | Disease-causing germline mutation(s) in |
| DMXL2 | Dmx like 2 | Disease-causing germline mutation(s) in |
| PIGP | phosphatidylinositol glycan anchor biosynthesis class P | Disease-causing germline mutation(s) in |
| TRIM8 | tripartite motif containing 8 | Disease-causing germline mutation(s) in |
| NEUROD2 | neuronal differentiation 2 | Disease-causing germline mutation(s) in |
| GRM7 | glutamate metabotropic receptor 7 | Disease-causing germline mutation(s) in |
| SLC32A1 | solute carrier family 32 member 1 | Disease-causing germline mutation(s) in |
| RHOBTB2 | Rho related BTB domain containing 2 | Disease-causing germline mutation(s) in |
| CACNA1E | calcium voltage-gated channel subunit alpha1 E | Disease-causing germline mutation(s) in |
临床表型 63
必现 100%1
- 癫痫发作 HP:0001250
极常见 99–80%5
- 癫痫性脑病 HP:0200134
- 局灶性运动性癫痫发作 HP:0011153
- 全面性肌阵挛发作 HP:0002123
- 全面发育迟缓 HP:0001263
- 智力障碍 HP:0001249
常见 79–30%13
- 吞咽困难 HP:0002015
- 脑电图异常 HP:0002353
- EEG伴爆发抑制 HP:0010851
- 喂养困难 HP:0011968
- 婴儿型肌张力减退 HP:0008947
- 局灶性强直发作 HP:0011167
- 反射亢进 HP:0001347
- 高度失律 HP:0002521
- 昏睡 HP:0001254
- 头部控制能力弱 HP:0002421
- 吸吮无力 HP:0002033
- 反复呼吸道感染 HP:0002205
- 睡眠异常 HP:0002360
偶见 29–5%26
- 失张力癫痫发作 HP:0010819
- 自闭症行为 HP:0000729
- 双侧强直- 阵挛发作 HP:0002069
- 小脑萎缩 HP:0001272
- 舞蹈手足徐动 HP:0001266
- 髓鞘化延迟 HP:0012448
- 发育倒退 HP:0002376
- 弥漫性脑萎缩 HP:0002506
- 弥漫性脑白质异常 HP:0007204
- 运动障碍 HP:0100660
- 脑电图，棘慢复合波 HP:0010850
- 发作性共济失调 HP:0002131
- 高热惊厥(年龄在3个月至6岁之间) HP:0002373
- 局灶性发作 HP:0007359
- 全面性阵挛性发作 HP:0011169
- 失神发作 HP:0002121
- 全面性强直发作 HP:0010818
- 多动症 HP:0000752
- 胼胝体发育不良 HP:0002079
- 婴儿痉挛 HP:0012469
- 肌阵挛 HP:0001336
- 巨脑回 HP:0001302
- 自伤行为 HP:0100716
- 痉挛 HP:0001257
- 震颤 HP:0001337
- 单侧和双侧多灶性痫样放电 HP:0011190
罕见 <4–1%18
- 拇指甲缺失 HP:0012554
- 鼻孔前翻 HP:0000463
- 宽指 HP:0001500
- 趾骨粗大 HP:0010174
- 腭裂 HP:0000175
- 鼻梁塌陷 HP:0005280
- 肌张力障碍 HP:0001332
- 发育迟滞 HP:0001508
- 小头畸形 HP:0000252
- 小阴茎 HP:0000054
- 性早熟 HP:0000826
- 肾发育不良 HP:0000110
- 短指畸形 HP:0009381
- 额头倾斜 HP:0000340
- 斜视 HP:0000486
- 脐疝 HP:0001537
- 输尿管囊肿 HP:0000070
- 室间隔缺损 HP:0001629
外部标识与链接
OrphanetOMIM:300672OMIM:308350OMIM:609304MONDO:800491GARD:9255ICD-10 G40.3ICD-11 8A62.YClinicalTrials.gov 检索
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）