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Dravet综合征

Dravet syndrome

ORPHA:33069疾病中国目录 第1批 · 105

定义 英文原文（暂无中文）

A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.

别名

婴儿严重肌阵挛型癫痫

基本事实

遗传方式
常染色体显性
发病年龄
婴儿期、新生儿期
患病率
1-9 / 100 000（Europe）

相关基因 7

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) (loss of function) in
SCN2Asodium voltage-gated channel alpha subunit 2Disease-causing germline mutation(s) in
SCN9Asodium voltage-gated channel alpha subunit 9Candidate gene tested in
GABRA1gamma-aminobutyric acid type A receptor subunit alpha1Disease-causing germline mutation(s) in
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2Disease-causing germline mutation(s) in
PCDH19protocadherin 19Disease-causing germline mutation(s) in

临床表型 46

极常见 99–80%3

  • 发育倒退 HP:0002376
  • 局灶性发作 HP:0007359
  • 进行性共济失调 HP:0007240

常见 79–30%24

  • 焦虑 HP:0000739
  • 非典型失神发作 HP:0007270
  • 自闭症行为 HP:0000729
  • 运动迟缓 HP:0002067
  • 认知功能损害 HP:0100543
  • 齿轮样强直 HP:0002396
  • 复杂性高热惊厥 HP:0011172
  • 部分性癫痫发作持续状态 HP:0012847
  • 面部抽动 HP:0011468
  • 高热惊厥(年龄在3个月至6岁之间) HP:0002373
  • 知觉保留的局灶性发作 HP:0002349
  • 局灶性偏侧阵挛发作 HP:0006813
  • 知觉受损的局灶性发作 HP:0002384
  • 全面性阵挛性发作 HP:0011169
  • 全面性肌阵挛发作 HP:0002123
  • 发作间期癫痫样放电 HP:0011182
  • 颈部运动范围受限 HP:0000466
  • 多灶性痫样放电 HP:0010841
  • 肌阵挛 HP:0001336
  • 强迫特质 HP:0008770
  • 帕金森症 HP:0001300
  • 光敏性肌阵挛发作 HP:0001327
  • 光敏性强直阵挛发作 HP:0007207
  • 强直 HP:0002063

偶见 29–5%18

  • 动作性震颤 HP:0002345
  • 紫绀发作 HP:0200048
  • 流涎 HP:0002307
  • 海马回发育不全 HP:0025101
  • 脑电图局灶性癫痫样放电 HP:0011185
  • 脑电图，伴广泛性癫痫样放电 HP:0011198
  • 婴儿型肌张力减退 HP:0008947
  • 全脑萎缩 HP:0002283
  • 冲动 HP:0100710
  • 不协调 HP:0002311
  • 伸膝受限 HP:0003066
  • 苍白圈 HP:0000980
  • 扁平足 HP:0001763
  • 足外翻 HP:0008081
  • 精细动作协调差 HP:0007010
  • 注意力短暂 HP:0000736
  • 非惊厥性癫痫持续状态 HP:0031475
  • 胫骨扭转 HP:0100694

罕见 <4–1%1

  • 全面性强直发作 HP:0010818

近两年的全球研究 1,388L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-08
    A Streamlined Workflow for Purkinje Cell Labeling and High-Resolution Analyses of Dendrites and Spines in Mice
    eNeuro · DOI · Europe PMC
  • 2026-08
    Beyond seizures in Dravet and Lennox-Gastaut syndromes - An Italian Expert Consensus on Non-Seizure issues and the role of fenfluramine
    Epilepsy & behavior : E&B · DOI · Europe PMC
  • 2026-07
    Optimizing polytherapy management for Dravet syndrome in the United States: A National Expert Consensus
    Epilepsia open · DOI · Europe PMC
  • 2026-07
    cGAS-mediated type I IFN signaling contributes to disease progression in drug-refractory epilepsy
    Nature neuroscience · DOI · Europe PMC
  • 2026-07
    Response to anti-seizure medications in children carrying novel or previously reported HCN1 gene variants
    Epilepsia open · DOI · Europe PMC
  • 2026-07
    Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
    Annals of clinical and translational neurology · DOI · Europe PMC
  • 2026-07
    Electroclinical phenotypes-genetic characterization of developmental and epileptic encephalopathies in a cohort study
    Epileptic disorders : international epilepsy journal with videotape · DOI · Europe PMC
  • 2026-07
    Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants
    Seizure · DOI · Europe PMC
  • 2026-07病例报告
    Fenfluramine in refractory &lt;i&gt;SCN1A&lt;/i&gt;-related 'genetic epilepsy with febrile seizures plus'
    BMJ case reports · DOI · Europe PMC
  • 2026-07
    Computational protein stability analysis of SCN1A missense variants reveals domain-dependent stability patterns
    Epilepsia open · DOI · Europe PMC
  • 2026-07
    Caregiver burden and care context in families with Dravet syndrome - a nationwide study in the Czech Republic
    Epilepsy & behavior : E&B · DOI · Europe PMC
  • 2026-07
    Age-dependent axonal dysfunctions and altered sharp-wave ripple oscillations in &lt;i&gt;Scn1a&lt;/i&gt; &lt;sup&gt;&lt;i&gt;+/-&lt;/i&gt;&lt;/sup&gt; mice
    iScience · DOI · Europe PMC
  • 2026-07
    Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). II. Treatments in more advanced clinical development
    Epilepsia · DOI · Europe PMC
  • 2026-07综述
    A systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Nonseizure outcomes
    Epilepsy research · DOI · Europe PMC
  • 2026-07
    Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management
    Turkish archives of pediatrics · DOI · Europe PMC
  • 2026-07
    Persistent input- and cell-type-specific synaptic alterations in the somatosensory thalamus of Dravet syndrome mice
    Journal of neurophysiology · DOI · Europe PMC
  • 2026-07
    Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report
    Epileptic disorders : international epilepsy journal with videotape · DOI · Europe PMC
  • 2026-07综述
    At the forefront of gene-based therapies in Dravet syndrome
    Expert opinion on emerging drugs · DOI · Europe PMC
  • 2026-07系统综述综述
    Neuropsychological profile in dravet syndrome: A systematic review
    Epilepsy & behavior : E&B · DOI · Europe PMC
  • 2026-07
    Living with Dravet syndrome: quality of life and caregiver burden among family caregivers in Europe. Results from the QoL4DRAVET study
    Epilepsy & behavior : E&B · DOI · Europe PMC

境外已获批用于本病的药物 4L2

欧盟 1 项、美国 3 项。同一药物在两地各批一次的，会分别列出。

「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。

药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。

已获孤儿药资格、尚未获批的在研药物（19 项）

孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。

  • 26 base synthetic single-stranded fully phosphorothioated 2'-O-methyl-欧盟2017-02-27
    Treatment of Dravet syndrome
    官方记录
  • Lorcaserin hydrochloride欧盟2021-03-26
    Treatment of Dravet syndrome
    官方记录
  • 18‐mer antisense oligonucleotide complementary to SCN1A mRNA;sodium sa欧盟2022-02-24
    Treatment of Dravet syndrome
    官方记录
  • adeno-associated virus serotype 9 expressing a transcription factor fo欧盟2023-05-22
    Treatment of Dravet syndrome
    官方记录
  • synthetic, single stranded, fully phosphorothioated 2¿-OMethyl-RNA and美国2017-03-16
    Treatment of Dravet Syndrome
    官方记录
  • Huperzine A美国2017-04-12
    Treatment of Dravet syndrome
    官方记录
  • lorcaserin美国2017-04-17
    Treatment of Dravet syndrome
    官方记录
  • clemizole美国2017-04-19
    Treatment of Dravet syndrome
    官方记录
  • trazodone美国2017-08-18
    Treatment of Dravet syndrome
    官方记录
  • cholesterol 24S-hydroxylase inhibitor美国2017-11-29
    Treatment of Dravet syndrome
    官方记录
  • cannabidiol美国2017-12-21
    Treatment of Dravet syndrome
    官方记录
  • diazepam美国2018-05-23
    Treatment of Dravet syndrome
    官方记录
  • 18-mer antisense oligonucleotide complementary to SCN1A mRNA美国2019-08-05
    Treatment of Dravet syndrome
    官方记录
  • non-replicating recombinant adeno associated viral vector, serotype 9,美国2020-05-14
    Treatment of Dravet Syndrome.
    官方记录
  • 2-[(3-Methylbutyl)amino]-1,4-naphthalenedione美国2021-10-12
    Treatment of Dravet Syndrome
    官方记录
  • small molecule agonist of 5-hydroxytryptamine serotonergic receptors美国2022-07-27
    Treatment of Dravet Syndrome
    官方记录
  • bexicaserin hydrochloride (bexicaserin)美国2024-09-17
    treatment of Dravet syndrome
    官方记录
  • (R)-N-benzyl-2-(2,5-dioxopyrrolidin-1-yl)propanamide美国2025-01-16
    treatment of Dravet syndrome
    官方记录
  • chemically modified oligonucleotide designed as an ADAR-recruiting gui美国2025-04-16
    treatment of Dravet syndrome
    官方记录

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 10L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 4

  • 招募中NCT06660394
    A Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS)
    III 期 · 干预性 · 2024/09/25Longboard Pharmaceuticals
    中国研究中心 6 个：Beijing、Guangzhou、Shanghai、Shenzhen Shi、Wuhan
  • 仅邀请入组NCT06908226
    A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
    III 期 · 干预性 · 2025/02/12Longboard Pharmaceuticals
    中国研究中心 5 个：Beijing、Guangzhou、Shanghai、Wuhan
  • 招募中NCT06872125
    A Double-blind Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen in Patients With Dravet Syndrome
    III 期 · 干预性 · 2025/06/04Stoke Therapeutics, Inc
    中国研究中心 3 个：Beijing、Guangzhou、Wuhan
  • 招募中NCT07675746
    A Study to Evaluate the Safety and Pharmacokinetics of RC001 in Children With Dravet Syndrome
    早期 I 期 · 干预性 · 2025/12/22Second Affiliated Hospital of Guangzhou Medical University
    中国研究中心 1 个：Guangzhou
其他状态的试验（6 项）
  • 已终止NCT03635073
    A Study of Soticlestat in Adults and Children With Rare Epilepsies
    II 期 · 干预性 · 2018/07/19Takeda
    中国研究中心 6 个：Beijing、Changsha、Shanghai、Shenzhen
  • 已完成NCT03650452
    A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies
    II 期 · 干预性 · 2018/08/08Takeda
    中国研究中心 6 个：Beijing、Changsha、Shanghai、Shenzhen
  • 已完成NCT04940624
    A Study of Soticlestat as an Add-on Therapy in Children and Young Adults With Dravet Syndrome
    III 期 · 干预性 · 2021/10/28Takeda
    中国研究中心 10 个：Beijing、Changchun、Changsha、Chongqing、Guangzhou、Shanghai 等 8 地
  • 已终止NCT05163314
    A Study of Soticlestat as an Add-on Therapy in Children and Adults With Dravet Syndrome or Lennox-Gastaut Syndrome
    III 期 · 干预性 · 2022/03/04Takeda
    中国研究中心 12 个：Beijing、Changchun、Changsha、Chongqing、Guangzhou、Nanchang 等 9 地
  • 已完成NCT06447675
    Efficacy and Safety Evaluation of Hyperthermic Baths in the Treatment of Seizures in CDKL5 Deficiency Disorder
    不适用 · 干预性 · 2024/09/20Xuanwu Hospital, Beijing
    中国研究中心 1 个：Beijing
  • 已完成NCT06663163
    The Association Between Fever and CDKL5 Deficiency Disorder: a Nationwide Survey
    观察性 · 2024/10/29Xuanwu Hospital, Beijing
    中国研究中心 1 个：Beijing

中国境外的在招试验 23L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

美国12澳大利亚4加拿大3法国3英国2阿根廷1巴西1Georgia1匈牙利1印度1波兰1西班牙1

CT.gov 报告命中 23 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT05249556
    Double-blind, Randomized, Placebo-controlled Trial of Ganaxolone in CDKL5 Deficiency Patients 6 Months to Less Than 2 Years Old
    III 期 · 干预性 · 2027/03Immedica Pharma AB
  • 尚未开始招募NCT07602205
    Efficacy and Safety of Daily Home-based Hyperthermic Baths for Reducing Epileptic Seizures in CDKL5 Deficiency Disorder: A PROBE Clinical Trial
    不适用 · 干预性 · 2026/08/01Xuanwu Hospital, Beijing
  • 尚未开始招募NCT06924827
    A Study to Investigate the Transition of Children From 'Artisanal" Cannabidiol (CBD) to Epidiolex
    IV 期 · 干预性 · 2026/06/01Elizabeth Donner
    加拿大
  • 招募中NCT07531745
    ASCEND: Safety and Tolerability of ION337 for the Treatment of Dravet Syndrome
    I 期、II 期 · 干预性 · 2026/05/21Ionis Pharmaceuticals, Inc.
    美国
  • 招募中NCT07013331
    A PET-MRI Study of Serotoninergic Brainstem Pathway in Patients With Dravet Syndrome
    不适用 · 干预性 · 2026/05/04Hospices Civils de Lyon
    法国
  • 招募中NCT07112365
    The FINTEPLA as an Anti-SUDEP Therapy in Dravet Syndrome Project
    IV 期 · 干预性 · 2026/04/27The University of Texas Health Science Center, Houston
    美国
  • 尚未开始招募NCT07225231
    Clinical Utility of Reduced EEG Home Monitoring in Fenfluramine Titration for Dravet and LGS
    不适用 · 干预性 · 2025/12/15Byteflies
  • 招募中NCT05126914
    Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents
    观察性 · 2025/12/11Assistance Publique - Hôpitaux de Paris
    法国
  • 招募中NCT07251673
    Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation
    观察性 · 2025/09/15Assistance Publique - Hôpitaux de Paris
    法国
  • 招募中NCT06967727
    Registry and Natural History of Epilepsy-Dyskinesia Syndromes
    观察性 · 2025/06/01Boston Children's Hospital
    美国
  • 尚未开始招募NCT06738732
    CBD Delivery with the A-Synaptic GT4 Transdermal Delivery System in with Dravet Syndrome And/or Lennox-Gastaut Syndrome
    I 期、II 期 · 干预性 · 2025/01Alexander Rotenberg
    美国
  • 招募中NCT06401538
    BMB-101 in Absence Epilepsy and DEE
    II 期 · 干预性 · 2024/12/05Bright Minds Biosciences Pty Ltd
    澳大利亚
  • 招募中NCT06598449
    Assessment of Safety of the Use of Fenfluramine in Children With Dravet Syndrome Under 24 Months of Age
    IV 期 · 干预性 · 2024/10/22University of Colorado, Denver
    美国
  • 招募中NCT06585605
    A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
    观察性 · 2024/07/01Boston Children's Hospital
    美国
  • 招募中NCT05419492
    A Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome
    I 期、II 期 · 干预性 · 2024/05/14Encoded Therapeutics
    澳大利亚、英国、美国

外部标识与链接

OrphanetOMIM:607208OMIM:612164OMIM:615744MONDO:0011794GARD:10430ICD-10 G40.4ICD-11 8A61.11ClinicalTrials.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）