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全面性癫痫伴热性惊厥附加症

Genetic epilepsy with febrile seizure plus

ORPHA:36387疾病

定义 英文原文（暂无中文）

A rare familial epilepsy syndrome characterized by febrile, focal and generalized seizures, with a spectrum of phenotypes largely variable among different family members.

别名

遗传性癫痫伴热性惊厥附加症

基本事实

遗传方式
常染色体显性
发病年龄
儿童期

相关基因 13

基因名称关联类型
SCN1Asodium voltage-gated channel alpha subunit 1Disease-causing germline mutation(s) in
SCN1Bsodium voltage-gated channel beta subunit 1Disease-causing germline mutation(s) in
SCN2Asodium voltage-gated channel alpha subunit 2Candidate gene tested in
SCN9Asodium voltage-gated channel alpha subunit 9Candidate gene tested in
CPA6carboxypeptidase A6Disease-causing germline mutation(s) (loss of function) in
GABRDgamma-aminobutyric acid type A receptor subunit deltaCandidate gene tested in
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2Disease-causing germline mutation(s) in
ADGRV1adhesion G protein-coupled receptor V1Candidate gene tested in
PRRT2proline rich transmembrane protein 2Disease-causing germline mutation(s) in
HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1Disease-causing germline mutation(s) in
STX1Bsyntaxin 1BDisease-causing germline mutation(s) in
FGF13fibroblast growth factor 13Disease-causing germline mutation(s) in
SLC32A1solute carrier family 32 member 1Disease-causing germline mutation(s) in

临床表型 28

极常见 99–80%1

  • 全面性发作 HP:0002197

常见 79–30%2

  • 高热惊厥(年龄在3个月至6岁之间) HP:0002373
  • 失神发作 HP:0002121

偶见 29–5%13

  • 共济失调 HP:0001251
  • 失张力癫痫发作 HP:0010819
  • 双侧强直- 阵挛发作 HP:0002069
  • 认知功能损害 HP:0100543
  • 皮质发育不良 HP:0002539
  • 发育倒退 HP:0002376
  • 脑电图，棘慢复合波 HP:0010850
  • 广泛性脑萎缩/发育不全 HP:0007058
  • 全面性肌阵挛发作 HP:0002123
  • 肌张力减退 HP:0001252
  • 不协调 HP:0002311
  • 非典型失神癫痫持续状态 HP:0011151
  • 精细动作协调差 HP:0007010

罕见 <4–1%12

  • 焦虑 HP:0000739
  • 自闭症行为 HP:0000729
  • 运动迟缓 HP:0002067
  • 知觉受损的局灶性发作 HP:0002384
  • 局灶性发作 HP:0007359
  • 伸膝受限 HP:0003066
  • 强迫特质 HP:0008770
  • 扁平足 HP:0001763
  • 癫痫持续状态 HP:0002133
  • 马蹄外翻足 HP:0004684
  • 胫骨扭转 HP:0100694
  • 震颤 HP:0001337

外部标识与链接

OrphanetOMIM:604233OMIM:604352OMIM:604403MONDO:0018214ICD-10 G40.3ICD-11 8A61.2YClinicalTrials.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）