# Síndrome Lennox-Gastaut

> Página oficial: https://raras.org/doenca/sindrome-lennox-gastaut
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 2382 — https://www.orpha.net/en/disease/detail/2382
- **CID-10**: G40.4
- **OMIM**: OMIM:606369 — https://omim.org/entry/606369

## Descrição clínica

A Síndrome de Lennox-Gastaut (SLG) pertence ao grupo das encefalopatias epilépticas graves da infância.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant, Multigenic/multifactorial, Not applicable

## Sinais e sintomas (54 fenótipos HPO)

- **EEG com espículas generalizadas** — HPO: HP:0012000
- **Comportamento autolesivo** — HPO: HP:0100716
- **Atrofia cerebral difusa** — HPO: HP:0002506
- **Estado de obnubilação** — HPO: HP:0011151
- **Espasmo epiléptico** — HPO: HP:0011097
- **Hipotonia** — HPO: HP:0001252
- **Crise focal com alteração da consciência** — HPO: HP:0002384
- **Distúrbio da marcha** — HPO: HP:0001288
- **Incapacidade de andar** — HPO: HP:0002540
- **Fala ausente** — HPO: HP:0001344
- **EEG com poliespículas generalizadas** — HPO: HP:0012001
- **Crise de ausência atípica** — HPO: HP:0007270 (Frequente (79-30%))
- **Irritabilidade** — HPO: HP:0000737 (Frequente (79-30%))
- **Crise mioclônica generalizada** — HPO: HP:0002123 (Ocasional (29-5%))
- **Hiperatividade** — HPO: HP:0000752 (Frequente (79-30%))
- **Regressão do desenvolvimento** — HPO: HP:0002376 (Ocasional (29-5%))
- **Vertigem** — HPO: HP:0002321 (Ocasional (29-5%))
- **Deficiência intelectual** — HPO: HP:0001249 (Muito frequente (99-80%))
- **Morfologia anormal do tronco cerebral** — HPO: HP:0002363 (Frequente (79-30%))
- **Atraso do neurodesenvolvimento** — HPO: HP:0012758 (Frequente (79-30%))
- **Crise tônico-clônica bilateral** — HPO: HP:0002069 (Frequente (79-30%))
- **Crise tônica generalizada** — HPO: HP:0010818 (Frequente (79-30%))
- **Crise de início focal** — HPO: HP:0007359 (Ocasional (29-5%))
- **Deterioração mental** — HPO: HP:0001268 (Frequente (79-30%))
- **Anormalidade no EEG** — HPO: HP:0002353 (Frequente (79-30%))
- **EEG com ondas lentas agudas focais** — HPO: HP:0011195 (Muito frequente (99-80%))
- **Quedas** — HPO: HP:0002527 (Frequente (79-30%))
- **Mioclonias** — HPO: HP:0001336 (Frequente (79-30%))
- **Transtorno de personalidade** — HPO: HP:0012075 (Frequente (79-30%))
- **Comportamento agressivo** — HPO: HP:0000718 (Frequente (79-30%))
- **Comportamento autista** — HPO: HP:0000729 (Frequente (79-30%))
- **Apatia** — HPO: HP:0000741 (Ocasional (29-5%))
- **Crise atônica** — HPO: HP:0010819 (Frequente (79-30%))
- **Psicose** — HPO: HP:0000709 (Ocasional (29-5%))
- **Comportamento atípico** — HPO: HP:0000708 (Frequente (79-30%))
- **Encefalopatia** — HPO: HP:0001298 (Muito frequente (99-80%))
- **Hipsarritmia** — HPO: HP:0002521
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Anormalidade do sono** — HPO: HP:0002360
- **Ataxia** — HPO: HP:0001251
- _...e mais 14 sintomas. Ver https://raras.org/doenca/sindrome-lennox-gastaut._

## Genes associados (7)

- **CACNA1A** — Voltage-dependent P/Q-type calcium channel subunit alpha-1A [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormon
- **CHD2** — ATP-dependent chromatin remodeler CHD2 [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogen
- **SCN1A** — Sodium channel protein type 1 subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated s
- **GABRB3** — Gamma-aminobutyric acid receptor subunit beta-3 [Disease-causing germline mutation(s) in]
  - Função: Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:18514161, PubMed:2
- **DNM1** — Dynamin-1 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission and participates in many forms of endocytosis, such as clathrin-mediated endocytosis or synaptic vesicle endocytosi
- **CUX2** — Homeobox protein cut-like 2 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in
- **MAPK10** — Mitogen-activated protein kinase 10 [Candidate gene tested in]
  - Função: Serine/threonine-protein kinase involved in various processes such as neuronal proliferation, differentiation, migration and programmed cell death. Extracellular stimuli such as pro-inflammatory cytok

## Medicamentos em desenvolvimento (3)

- RUFINAMIDE — Fase Phase 4 (Sodium channel alpha subunit blocker)
- CANNABIDIOL — Fase Phase 4 (Cannabinoid CB1 receptor negative allosteric modulator)
- TOPIRAMATE — Fase Phase 4 (Sodium channel alpha subunit blocker)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016532

## Ensaios clínicos ativos (12)

- **NCT05066217** [RECRUITING]: An Efficacy and Safety Study of Clemizole HCl in Patients With Lennox-Gastaut Syndrome — https://clinicaltrials.gov/study/NCT05066217
- **NCT06924086** [RECRUITING]: The Children's Adaptive Deep Brain Stimulation for Epilepsy Trial — https://clinicaltrials.gov/study/NCT06924086
- **NCT05485831** [RECRUITING]: Epidyolex® in Lennox Gastaut, Dravet Syndrome and Tuberous Sclerosis Complex: an Observational Study in ITALY — https://clinicaltrials.gov/study/NCT05485831
- **NCT06401538** [RECRUITING]: BMB-101 in Absence Epilepsy and DEE — https://clinicaltrials.gov/study/NCT06401538
- **NCT05219617** [RECRUITING]: Investigate Efficacy and Safety of Carisbamate as Adjunctive Treatment for Seizures Associated With LGS in Children and Adults — https://clinicaltrials.gov/study/NCT05219617
- **NCT05374824** [RECRUITING]: Comparative Effectiveness of Palliative Surgery Versus Additional Anti-Seizure Medications for Lennox-Gastaut Syndrome — https://clinicaltrials.gov/study/NCT05374824
- **NCT06464653** [ACTIVE_NOT_RECRUITING]: Pallidothalamic Tracts Electrical Stimulation for Lennox-Gastaut Syndrome — https://clinicaltrials.gov/study/NCT06464653
- **NCT05044819** [ACTIVE_NOT_RECRUITING]: Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution — https://clinicaltrials.gov/study/NCT05044819
- **NCT05339126** [ACTIVE_NOT_RECRUITING]: RNS System LGS Feasibility Study — https://clinicaltrials.gov/study/NCT05339126
- **NCT06924827** [NOT_YET_RECRUITING]: A Study to Investigate the Transition of Children From 'Artisanal" Cannabidiol (CBD) to Epidiolex — https://clinicaltrials.gov/study/NCT06924827

## Doenças relacionadas (por similaridade fenotípica)

- [Encefalopatia epiléptica de início precoce inespecífica](https://raras.org/doenca/encefalopatia-epileptica-de-inicio-precoce-inespecifica) — ORPHA:442835 — 40 sintomas em comum
- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 36 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 30 sintomas em comum
- [Encefalopatia epiléptica e do desenvolvimento infantil precoce](https://raras.org/doenca/encefalopatia-epileptica-e-do-desenvolvimento-infantil-precoce) — ORPHA:1934 — 30 sintomas em comum
- [Encefalopatia mioclônica precoce](https://raras.org/doenca/encefalopatia-mioclonica-precoce) — ORPHA:1935 — 30 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 27 sintomas em comum
- [Infantile epileptic spasms syndrome](https://raras.org/doenca/infantile-epileptic-spasms-syndrome) — ORPHA:697160 — 25 sintomas em comum
- [Síndrome West](https://raras.org/doenca/sindrome-west) — ORPHA:3451 — 25 sintomas em comum
- [Síndrome de perturbação global do desenvolvimento-anomalias neuro-oftalmológicas-convulsões-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-perturbacao-global-do-desenvolvimento-anomalias-neuro-oftalmologicas-convulsoes-perturbacao-do-desenvolvimento-intelectual) — ORPHA:488613 — 24 sintomas em comum
- [Síndrome Rett atípico](https://raras.org/doenca/sindrome-rett-atipico) — ORPHA:3095 — 24 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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