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未确定的早发性癫痫性脑病

Non-specific early-onset epileptic encephalopathy

ORPHA:442835疾病

定义

一种罕见的婴儿癫痫综合征，其特征是早期发作的和严重程度各异的，可能与一系列临床体征和症状有关，包括精神运动发育延迟或缺乏，智力障碍，语言发育不良或缺乏，行为异常，肌张力低下，运动疾病，痉挛，小头畸形和面部畸形等。脑部影像学发现也各不相同，可能包括脑萎缩或白质异常。

别名

未确定EOEE

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
婴儿期、新生儿期

相关基因 55

基因名称关联类型
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2Disease-causing germline mutation(s) in
SCN1Asodium voltage-gated channel alpha subunit 1Disease-causing germline mutation(s) in
CACNA1Acalcium voltage-gated channel subunit alpha1 ADisease-causing germline mutation(s) in
ATP1A2ATPase Na+/K+ transporting subunit alpha 2Disease-causing germline mutation(s) in
ATP1A3ATPase Na+/K+ transporting subunit alpha 3Disease-causing germline mutation(s) in
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2Disease-causing germline mutation(s) in
FOXG1forkhead box G1Disease-causing germline mutation(s) in
SYNGAP1synaptic Ras GTPase activating protein 1Candidate gene tested in
AARS1alanyl-tRNA synthetase 1Disease-causing germline mutation(s) (loss of function) in
DHDDSdehydrodolichyl diphosphate synthase subunitDisease-causing germline mutation(s) in
SCN8Asodium voltage-gated channel alpha subunit 8Disease-causing germline mutation(s) (gain of function) in
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1Disease-causing germline mutation(s) in
CLTCclathrin heavy chainDisease-causing germline mutation(s) in
DEPDC5DEP domain containing 5, GATOR1 subcomplex subunitDisease-causing germline mutation(s) in
NTRK2neurotrophic receptor tyrosine kinase 2Disease-causing germline mutation(s) in
SZT2SZT2 subunit of KICSTOR complexDisease-causing germline mutation(s) in
SYNJ1synaptojanin 1Disease-causing germline mutation(s) in
NECAP1NECAP endocytosis associated 1Disease-causing germline mutation(s) (loss of function) in
HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1Disease-causing germline mutation(s) (gain of function) in
SLC13A5solute carrier family 13 member 5Disease-causing germline mutation(s) in
KCNB1potassium voltage-gated channel subfamily B member 1Disease-causing germline mutation(s) in
DNM1dynamin 1Disease-causing germline mutation(s) in
UFSP2UFM1 specific peptidase 2Disease-causing germline mutation(s) (loss of function) in
KCNA2potassium voltage-gated channel subfamily A member 2Disease-causing germline mutation(s) (loss of function) in
KCNA2potassium voltage-gated channel subfamily A member 2Disease-causing germline mutation(s) (gain of function) in
EEF1A2eukaryotic translation elongation factor 1 alpha 2Disease-causing germline mutation(s) in
CNKSR2connector enhancer of kinase suppressor of Ras 2Disease-causing germline mutation(s) in
FGF12fibroblast growth factor 12Disease-causing germline mutation(s) (gain of function) in
UBA5ubiquitin like modifier activating enzyme 5Disease-causing germline mutation(s) (loss of function) in
GRIN2Dglutamate ionotropic receptor NMDA type subunit 2DDisease-causing germline mutation(s) (gain of function) in
CACNA1Bcalcium voltage-gated channel subunit alpha1 BDisease-causing germline mutation(s) (loss of function) in
FBXO28F-box protein 28Disease-causing germline mutation(s) in
GABBR2gamma-aminobutyric acid type B receptor subunit 2Disease-causing germline mutation(s) in
GABRB2gamma-aminobutyric acid type A receptor subunit beta2Disease-causing germline mutation(s) in
PACS2phosphofurin acidic cluster sorting protein 2Disease-causing germline mutation(s) in
SCN3Asodium voltage-gated channel alpha subunit 3Disease-causing germline mutation(s) in
SLC1A2solute carrier family 1 member 2Disease-causing germline mutation(s) in
AP3B2adaptor related protein complex 3 subunit beta 2Disease-causing germline mutation(s) in
ATP6V1AATPase H+ transporting V1 subunit ADisease-causing germline mutation(s) in
PARS2prolyl-tRNA synthetase 2, mitochondrialDisease-causing germline mutation(s) in

临床表型 48

极常见 99–80%1

  • 脑病 HP:0001298

常见 79–30%10

  • 协调异常 HP:0011443
  • 语言发育迟缓 HP:0000750
  • 发育倒退 HP:0002376
  • 脑电图，多灶性慢活动 HP:0010844
  • 发育迟滞 HP:0001508
  • 全身性肌张力减低 HP:0001290
  • 全面发育迟缓 HP:0001263
  • 腱反射减弱 HP:0001265
  • 智力障碍 HP:0001249
  • 癫痫发作 HP:0001250

偶见 29–5%31

  • 胼胝体形态异常 HP:0001273
  • 髓鞘异常 HP:0012447
  • 共济失调 HP:0001251
  • 注意力缺陷多动障碍 HP:0007018
  • 非典型行为 HP:0000708
  • 孤独症 HP:0000717
  • 脑萎缩 HP:0012444
  • 脑萎缩 HP:0002059
  • 胎动减少 HP:0001558
  • 下斜睑裂 HP:0000494
  • 运动障碍 HP:0100660
  • 喂养困难 HP:0011968
  • 步态异常 HP:0001288
  • 胃食管反流 HP:0002020
  • 额头高 HP:0000348
  • 缺牙症 HP:0000668
  • 高度失律 HP:0002521
  • 冲动 HP:0100710
  • 不自主运动 HP:0004305
  • 智能衰退 HP:0001268
  • 小头畸形 HP:0000252
  • 肌阵挛 HP:0001336
  • 眼球震颤 HP:0000639
  • 头部控制能力弱 HP:0002421
  • 上睑下垂 HP:0000508
  • 腱反射减低 HP:0001315
  • 强直 HP:0002063
  • 身材矮小 HP:0004322
  • 痉挛 HP:0001257
  • 震颤 HP:0001337
  • 步态不稳 HP:0002317

罕见 <4–1%6

  • 不自主眼球运动异常 HP:0012547
  • 视力异常 HP:0000504
  • 肢体张力亢进 HP:0002509
  • 视神经萎缩 HP:0000648
  • 视网膜变性 HP:0000546
  • 癫痫持续状态 HP:0002133

外部标识与链接

OrphanetOMIM:301058OMIM:614558OMIM:615476MONDO:0018614ICD-10 G40.4ClinicalTrials.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）