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Lennox-Gastaut综合征

Lennox-Gastaut syndrome

ORPHA:2382疾病中国目录 第2批 · 44

定义 英文原文（暂无中文）

A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities.

基本事实

遗传方式
常染色体显性、多基因/多因素、不适用
发病年龄
儿童期、婴儿期
患病率
1-9 / 1 000 000（Europe）

相关基因 8

基因名称关联类型
SCN1Asodium voltage-gated channel alpha subunit 1Disease-causing germline mutation(s) in
CACNA1Acalcium voltage-gated channel subunit alpha1 ADisease-causing germline mutation(s) (loss of function) in
CACNA1Acalcium voltage-gated channel subunit alpha1 ADisease-causing germline mutation(s) (gain of function) in
GABRB3gamma-aminobutyric acid type A receptor subunit beta3Disease-causing germline mutation(s) in
MAPK10mitogen-activated protein kinase 10Candidate gene tested in
CHD2chromodomain helicase DNA binding protein 2Disease-causing germline mutation(s) in
DNM1dynamin 1Disease-causing germline mutation(s) in
CUX2cut like homeobox 2Disease-causing germline mutation(s) in

临床表型 25

极常见 99–80%3

  • 脑电图，局灶性尖慢波 HP:0011195
  • 脑病 HP:0001298
  • 智力障碍 HP:0001249

常见 79–30%16

  • 脑干形态异常 HP:0002363
  • 攻击性行为 HP:0000718
  • 失张力癫痫发作 HP:0010819
  • 非典型失神发作 HP:0007270
  • 非典型行为 HP:0000708
  • 自闭症行为 HP:0000729
  • 双侧强直- 阵挛发作 HP:0002069
  • 脑电图异常 HP:0002353
  • 跌倒 HP:0002527
  • 全面性强直发作 HP:0010818
  • 多动症 HP:0000752
  • 易激惹 HP:0000737
  • 智能衰退 HP:0001268
  • 肌阵挛 HP:0001336
  • 神经发育延迟 HP:0012758
  • 人格障碍 HP:0012075

偶见 29–5%6

  • 情感淡漠 HP:0000741
  • 发育倒退 HP:0002376
  • 局灶性发作 HP:0007359
  • 全面性肌阵挛发作 HP:0002123
  • 精神病 HP:0000709
  • 眩晕 HP:0002321

近两年的全球研究 964L2

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
    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
  • 2026-08
    Changes in effectiveness and safety in patients with Lennox-Gastaut syndrome transitioning from the fenfluramine randomized controlled trial to open-label extension study
    Epilepsia open · DOI · Europe PMC
  • 2026-08
    Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy
    Epilepsia open · DOI · Europe PMC
  • 2026-07
    Views of caregivers, clinicians, and epilepsy advocacy group representatives on survey instruments used to assess behavior, communication, and quality of life in individuals with Lennox-Gastaut syndrome
    Epilepsy research · DOI · Europe PMC
  • 2026-07
    Receiving information and determining research priorities for Lennox-Gastaut syndrome: A community-focused study of caregivers' experiences and preferences
    Epilepsy research · DOI · Europe PMC
  • 2026-07
    CATATONIA AS A MANIFESTATION OF FORCED NORMALIZATION: SUCCESSFUL TREATMENT WITH LORAZEPAM
    Journal of the Academy of Consultation-Liaison Psychiatry · DOI · Europe PMC
  • 2026-07
    Comparative multicenter evaluation of thalamic neuromodulation for treatment-resistant epilepsy in children
    Epilepsia · DOI · Europe PMC
  • 2026-07
    Facilitating the timely diagnosis of Lennox-Gastaut syndrome: A checklist to support clinical practice
    Epileptic disorders : international epilepsy journal with videotape · DOI · Europe PMC
  • 2026-07
    Refining diagnostic boundaries and electroclinical profiles of Lennox-Gastaut syndrome through unsupervised clustering
    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
    Comparative Seizure Outcomes of Vagus Nerve Stimulation, Deep Brain Stimulation, and Their Combination in Lennox-Gastaut Syndrome
    Annals of neurology · DOI · Europe PMC
  • 2026-07
    At-home EEG-based sleep monitoring in people living with Lennox-Gastaut syndrome: The HEADFIRST study
    Epilepsy & behavior : E&B · DOI · Europe PMC
  • 2026-07
    Carisbamate treatment of adult and pediatric patients with Lennox-Gastaut syndrome: A phase 1 pharmacokinetic, safety, and tolerability study
    Epilepsy research · DOI · Europe PMC
  • 2026-07
    Deep brain stimulation of the anterior thalamic nucleus in Lennox-Gastaut syndrome with EEG changes during off-on stimulation
    Brain stimulation · DOI · Europe PMC
  • 2026-07
    Prolonged fenfluramine use in open-label studies of Dravet or Lennox-Gastaut syndromes: Long-term safety, tolerability, patient global functioning, and considerations for interpreting effectiveness
    Epilepsia · DOI · Europe PMC
  • 2026-07
    Expanding the electroclinical spectrum of TANC2-related disorders: Lennox-Gastaut syndrome and related developmental epileptic phenotypes
    Epilepsia open · DOI · Europe PMC
  • 2026-07
    Practice Patterns and Care Gaps in Lennox-Gastaut Syndrome: A Call for Action
    The Canadian journal of neurological sciences. Le journal canadien des · DOI · Europe PMC
  • 2026-06
    Fast oscillations as useful biomarkers of the degree of epileptogenicity in each generalized epilepsy syndrome
    Clinical neurophysiology : official journal of the International Feder · DOI · Europe PMC
  • 2026-06
    SUDEP and mortality in developmental and epileptic encephalopathies: A meta-analysis of randomized clinical trials and extension studies
    Epilepsia · DOI · Europe PMC
  • 2026-06
    Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real-world clinical-practice study
    Epilepsia · DOI · Europe PMC

国家医保药品目录中点名本病的药品 1L2

出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。

匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。

  • 氯巴占片乙类西药
    限2岁及以上Lennox-Gastaut综合征(LGS)患者癫痫发作的联合治疗。

境外已获批用于本病的药物 10L2

欧盟 3 项、美国 7 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（11 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。

  • soticlestat欧盟2021-11-12
    Treatment of Lennox-Gastaut syndrome
    官方记录
  • carisbamate美国2017-08-02
    Treatment of Lennox-Gastaut syndrome
    官方记录
  • cannabidiol (CBD)美国2017-10-24
    Treatment of Lennox-Gastaut syndrome
    官方记录
  • cholesterol 24S-hydroxylase inhibitor美国2017-12-06
    Treatment of Lennox-Gastaut syndrome
    官方记录
  • (-)-huperzine A美国2020-06-15
    Treatment of Lennox-Gastaut Syndrome
    官方记录
  • a peptidomimetic protein peptide with sequence H-Gly-Arg-Arg-Ala-Ala-P美国2021-04-08
    Treatment of Lennox- Gastaut Syndrome
    官方记录
  • Lorcaserin Hydrochloride美国2021-07-21
    Treatment of Lennox-Gastaut syndrome (LGS)
    官方记录
  • Clemizole美国2021-10-14
    Treatment of Lennox-Gastaut Syndrome
    官方记录
  • ganaxolone美国2023-03-21
    Treatment of Lennox-Gastaut Syndrome (LGS)
    官方记录
  • bexicaserin hydrochloride美国2024-11-04
    treatment of Lennox-Gastaut Syndrome
    官方记录
  • (+)-((1S, 2S)-2-(5-Fluoro-2-propoxyphenyl)cyclopropyl)methanamine hydr美国2026-07-26
    treatment of Lennox-Gastaut syndrome (LGS)
    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 8L2

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 1

  • 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
其他状态的试验（7 项）
  • 状态未知NCT02632149
    Trial to Assess Vagus Nerve Stimulation Therapy in Children With Lennox-Gastaut Syndrome
    早期 I 期 · 干预性 · 2016/10Beijing Pins Medical Co., Ltd
    中国研究中心 5 个：Jinan、Jining、Linyi、Qingdao、Yantai
  • 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NCT04938427
    A Study of Soticlestat as an Add-on Therapy in Children, Teenagers, and Adults With Lennox-Gastaut Syndrome
    III 期 · 干预性 · 2021/11/08Takeda
    中国研究中心 12 个：Beijing、Changchun、Changsha、Chongqing、Guangzhou、Nanchang 等 9 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
  • 进行中·不再招募NCT06464653
    Pallidothalamic Tracts Electrical Stimulation for Lennox-Gastaut Syndrome
    不适用 · 干预性 · 2024/05/01Liankun_Ren
    中国研究中心 1 个：Beijing
  • 进行中·不再招募NCT06719141
    A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
    III 期 · 干预性 · 2024/11/11Longboard Pharmaceuticals
    中国研究中心 6 个：Beijing、Guangzhou、Shanghai、Shenzhen Shi、Wuhan

中国境外的在招试验 12L2

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6波兰3澳大利亚3意大利2加拿大1英国1阿根廷1哥伦比亚1德国1希腊1匈牙利1以色列1墨西哥1葡萄牙1另有 4 个国家/地区

共 12 项。

  • 尚未开始招募NCT07728097
    A Study to Investigate the Effect of Gradual Titration to Optimize Cannabidiol Treatment in Adults With LGS
    IV 期 · 干预性 · 2026/11/18Jazz Pharmaceuticals
    美国
  • 尚未开始招募NCT07568860
    Sleep-Driven Adaptive Neuromodulation in Lennox-Gastaut Syndrome
    不适用 · 干预性 · 2026/10/01University of Minnesota
  • 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NCT06924086
    The Children's Adaptive Deep Brain Stimulation for Epilepsy Trial
    不适用 · 干预性 · 2026/03/24University College, London
    英国
  • 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NCT05066217
    An Efficacy and Safety Study of Clemizole HCl in Patients With Lennox-Gastaut Syndrome
    III 期 · 干预性 · 2025/04/09Epygenix
    意大利、波兰、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NCT05219617
    Investigate Efficacy and Safety of Carisbamate as Adjunctive Treatment for Seizures Associated With LGS in Children and Adults
    III 期 · 干预性 · 2022/04/28SK Life Science, Inc.
    阿根廷、澳大利亚、哥伦比亚、德国、希腊、匈牙利、以色列、意大利 等 16 国
  • 招募中NCT05374824
    Comparative Effectiveness of Palliative Surgery Versus Additional Anti-Seizure Medications for Lennox-Gastaut Syndrome
    观察性 · 2022/04/01Ann & Robert H Lurie Children's Hospital of Chicago
    美国
  • 可获取（拓展性用药）NCT06149663
    Intermediate-Size Expanded Access Protocol (EAP) for LP352
    拓展性用药Longboard Pharmaceuticals
    澳大利亚、美国
  • 可获取（拓展性用药）NCT03778424
    An Extended Access Program (EAP) for Participants Who Have Completed Rufinamide Study E2080-G000-303
    拓展性用药Eisai Inc.
    波兰

外部标识与链接

OrphanetOMIM:615369OMIM:616346OMIM:617113MONDO:0016532GARD:9912ICD-10 G40.4ICD-11 8A62.1ClinicalTrials.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）