# Síndrome epiléptico

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

## Identificadores

- **ORPHA**: 166463 — https://www.orpha.net/en/disease/detail/166463
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma síndrome que se caracteriza por um conjunto de sintomas e sinais, e/ou por alterações no eletroencefalograma (EEG), que mostram atividade epiléptica. Frequentemente, está associada a outros problemas de saúde, como dificuldades de raciocínio e aprendizado, deficiência intelectual, atrasos no desenvolvimento de movimentos (tanto os amplos, como andar, quanto os mais finos, como escrever), dificuldades de fala e linguagem, e pode afetar outras funções do corpo. Suas causas podem ser específicas — como problemas na estrutura do cérebro, causas genéticas, metabólicas (ligadas ao funcionamento químico do corpo), imunológicas (relacionadas ao sistema de defesa) ou infecciosas — ou sua origem pode ser desconhecida.

## Epidemiologia e herança


## Sinais e sintomas (613 fenótipos HPO)

- **Sucção pobre** — HPO: HP:0002033
- **Atraso no desenvolvimento motor fino** — HPO: HP:0010862
- **Coordenação olho-mão pobre** — HPO: HP:0007057
- **Fala hipernasal** — HPO: HP:0001611
- **Atrofia óptica de Leber** — HPO: HP:0001112
- **Sinusite** — HPO: HP:0000246
- **EEG com ondas de espícula focais parietais** — HPO: HP:0012012
- **EEG com ondas agudas parietais** — HPO: HP:0011295
- **Morfologia anormal do tronco cerebral** — HPO: HP:0002363
- **Tosse** — HPO: HP:0012735
- **Mialgia** — HPO: HP:0003326
- **Morte súbita** — HPO: HP:0001699
- **EEG com ondas agudas focais** — HPO: HP:0011196
- **Apatia** — HPO: HP:0000741
- **Prosódia da fala anormal** — HPO: HP:0031434
- **Voz anormalmente grave** — HPO: HP:0010300
- **Fala incompreensível** — HPO: HP:0002546
- **Preferência do olhar visual** — HPO: HP:0025518
- **Afasia motora** — HPO: HP:0002427
- **Deterioração social e ocupacional** — HPO: HP:0007086
- **Rubor** — HPO: HP:0031284
- **Estado de mal epiléptico não convulsivo sem coma** — HPO: HP:0032671
- **EEG com espículas focais temporais** — HPO: HP:0012018
- **Déficit de reconhecimento de palavras faladas** — HPO: HP:0030391
- **Positividade de autoanticorpos** — HPO: HP:0030057
- **Marcha escarvante** — HPO: HP:0003376
- **Dor** — HPO: HP:0012531
- **Amaurose fugaz** — HPO: HP:0100576
- **EEG com espículas focais frontais** — HPO: HP:0012015
- **EEG com ondas de espícula focais occipitais** — HPO: HP:0012011
- **Consciência/confusão reduzida** — HPO: HP:0004372
- **Insônia** — HPO: HP:0100785
- **Atrofia cerebelar difusa** — HPO: HP:0100275
- **Comportamento visual pobre para a idade** — HPO: HP:0025152
- **Proptose** — HPO: HP:0000520
- **Sonolência diurna excessiva** — HPO: HP:0001262
- **Mioclonias palpebrais** — HPO: HP:0011168
- **Córtex cerebral espesso** — HPO: HP:0006891
- **Infecções recorrentes do trato respiratório superior** — HPO: HP:0002788
- **Parassonia do sono não REM** — HPO: HP:0025235
- _...e mais 573 sintomas. Ver https://raras.org/doenca/sindrome-epileptico._

## Genes associados (79)

- **EPM2A** — Laforin, isoform 9 [Disease-causing germline mutation(s) in]
- **CDK19** — Cyclin-dependent kinase 19 [Candidate gene tested in]
- **GABRA2** — Gamma-aminobutyric acid receptor subunit alpha-2 [Candidate gene tested in]
  - Função: Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790, PubMed:29961870, PubMed:
- **AARS1** — Alanine--tRNA ligase, cytoplasmic [Candidate gene tested in]
  - Função: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala) (PubMed:27622773, PubMe
- **GRIN2D** — Glutamate receptor ionotropic, NMDA 2D [Candidate gene tested in]
  - Função: Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed
- **GABRA5** — Gamma-aminobutyric acid receptor subunit alpha-5 [Candidate gene tested in]
  - Função: Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:29961870, PubMed:
- **SLC2A1** — Solute carrier family 2, facilitated glucose transporter member 1 [Candidate gene tested in]
  - Função: Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, P
- **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
- **FRRS1L** — DOMON domain-containing protein FRRS1L [Candidate gene tested in]
  - Função: Important modulator of glutamate signaling pathway
- **KCNT1** — Potassium channel subfamily T member 1 [Candidate gene tested in]
  - Função: Sodium-activated K(+) channel (PubMed:37494189). Acts as an important mediator of neuronal membrane excitability (PubMed:37494189). Contributes to the delayed outward currents (By similarity). Regulat
- **PLCB1** — 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 [Candidate gene tested in]
  - Função: Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-couple
- **SLC12A5** — Solute carrier family 12 member 5 [Candidate gene tested in]
  - Função: Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis (PubMed:12106695). As major extruder of intracellular chloride, it establishes t
- **DMXL2** — DmX-like protein 2 [Candidate gene tested in]
  - Função: May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity
- **GRIN1** — Glutamate receptor ionotropic, NMDA 1 [Candidate gene tested in]
  - Função: Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed
- **GNAO1** — Guanine nucleotide-binding protein G(o) subunit alpha [Candidate gene tested in]
  - Função: Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:29925951, PubMed:33408414). The alpha

## Medicamentos em desenvolvimento (4)

- LAMOTRIGINE — Fase Phase 4 (Sodium channel alpha subunit blocker)
- 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_0015650

## Ensaios clínicos ativos (9)

- **NCT06492720** [RECRUITING]: A Pilot Study to Evaluate the Efficacy and Safety of NaviFUS™ System Neuromodulating Treatment for Patients With Drug Resistant Epilepsy — https://clinicaltrials.gov/study/NCT06492720
- **NCT01273129** [RECRUITING]: Surgery as a Treatment for Medically Intractable Epilepsy — https://clinicaltrials.gov/study/NCT01273129
- **NCT03478852** [RECRUITING]: Investigating Epilepsy: Screening and Evaluation — https://clinicaltrials.gov/study/NCT03478852
- **NCT05126914** [RECRUITING]: Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents — https://clinicaltrials.gov/study/NCT05126914
- **NCT04649008** [RECRUITING]: Localizing Epileptic Networks Using MRI and iEEG — https://clinicaltrials.gov/study/NCT04649008
- **NCT05472389** [ACTIVE_NOT_RECRUITING]: Neurodevelopmental Impact of Epilepsy on Autonomic Function in Dravet Syndrome — https://clinicaltrials.gov/study/NCT05472389
- **NCT05339126** [ACTIVE_NOT_RECRUITING]: RNS System LGS Feasibility Study — https://clinicaltrials.gov/study/NCT05339126
- **NCT07013331** [NOT_YET_RECRUITING]: A PET-MRI Study of Serotoninergic Brainstem Pathway in Patients With Dravet Syndrome — https://clinicaltrials.gov/study/NCT07013331
- **NCT07281027** [NOT_YET_RECRUITING]: COMparison Between Anakinra and Tocilizumab in NORSE - "COMBAT-NORSE" — https://clinicaltrials.gov/study/NCT07281027
- **NCT03635073** [TERMINATED]: A Study of Soticlestat in Adults and Children With Rare Epilepsies — https://clinicaltrials.gov/study/NCT03635073

## Doenças relacionadas (por similaridade fenotípica)

- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 175 sintomas em comum
- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 174 sintomas em comum
- [Encefalopatia epiléptica de início precoce inespecífica](https://raras.org/doenca/encefalopatia-epileptica-de-inicio-precoce-inespecifica) — ORPHA:442835 — 159 sintomas em comum
- [Síndrome Rett atípico](https://raras.org/doenca/sindrome-rett-atipico) — ORPHA:3095 — 120 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 119 sintomas em comum
- [Infantile epileptic spasms syndrome](https://raras.org/doenca/infantile-epileptic-spasms-syndrome) — ORPHA:697160 — 116 sintomas em comum
- [Síndrome West](https://raras.org/doenca/sindrome-west) — ORPHA:3451 — 116 sintomas em comum
- [Epilepsia parcial familiar](https://raras.org/doenca/epilepsia-parcial-familiar) — ORPHA:309 — 108 sintomas em comum
- [Polimicrogiria bilateral](https://raras.org/doenca/polimicrogiria-bilateral) — ORPHA:268940 — 107 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 105 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

---

**Citação sugerida**: Raras.org — Síndrome epiléptico. Disponível em: https://raras.org/doenca/sindrome-epileptico
**Formato HTML**: https://raras.org/doenca/sindrome-epileptico
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=166463