# Síndrome epilepsia de início na infância

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

## Identificadores

- **ORPHA**: 98259 — https://www.orpha.net/en/disease/detail/98259
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma síndrome epiléptica que acontece na infância.

## Epidemiologia e herança


## Sinais e sintomas (281 fenótipos HPO)

- **Deficiência intelectual, moderada** — HPO: HP:0002342
- **Letargia** — HPO: HP:0001254
- **Fala hipernasal** — HPO: HP:0001611
- **Sinusite** — HPO: HP:0000246
- **EEG com ondas de espícula focais parietais** — HPO: HP:0012012
- **EEG com ondas agudas parietais** — HPO: HP:0011295
- **Vertigem** — HPO: HP:0002321
- **Morfologia anormal do tronco cerebral** — HPO: HP:0002363
- **Deterioração mental** — HPO: HP:0001268
- **Irritabilidade** — HPO: HP:0000737
- **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
- **EEG com ondas lentas agudas focais** — HPO: HP:0011195
- **Encefalopatia** — HPO: HP:0001298
- **Prosódia da fala anormal** — HPO: HP:0031434
- **Voz anormalmente grave** — HPO: HP:0010300
- **Fala incompreensível** — HPO: HP:0002546
- **Atraso do neurodesenvolvimento** — HPO: HP:0012758
- **Preferência do olhar visual** — HPO: HP:0025518
- **Afasia motora** — HPO: HP:0002427
- **Deterioração social e ocupacional** — HPO: HP:0007086
- **Polimicrogiria** — HPO: HP:0002126
- **Rubor** — HPO: HP:0031284
- **Estado de mal epiléptico não convulsivo sem coma** — HPO: HP:0032671
- **Crise clônica generalizada** — HPO: HP:0011169
- **Ataxia da marcha** — HPO: HP:0002066
- **Disartria** — HPO: HP:0001350
- **EEG com espículas focais temporais** — HPO: HP:0012018
- **Déficit de reconhecimento de palavras faladas** — HPO: HP:0030391
- **Positividade de autoanticorpos** — HPO: HP:0030057
- **Crise mioclônica focal** — HPO: HP:0011166
- **Dificuldade para ficar em pé** — HPO: HP:0003698
- **Marcha escarvante** — HPO: HP:0003376
- **Mutismo** — HPO: HP:0002300
- **Comprometimento da linguagem** — HPO: HP:0002463
- **Dor** — HPO: HP:0012531
- **Quedas frequentes** — HPO: HP:0002359
- _...e mais 241 sintomas. Ver https://raras.org/doenca/sindrome-epilepsia-de-inicio-na-infancia._

## Genes associados (37)

- **SCN3A** — Sodium channel protein type 3 subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Pore-forming subunit of Nav1.3, 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
- **RELN** — Reelin [Candidate gene tested in]
  - Função: Extracellular matrix serine protease secreted by pioneer neurons that plays a role in layering of neurons in the cerebral cortex and cerebellum by coordinating cell positioning during neurodevelopment
- **MICAL1** — [F-actin]-monooxygenase MICAL1 [Candidate gene tested in]
  - Função: Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preven
- **CRH** — Corticoliberin [Candidate gene tested in]
  - Função: Hormone regulating the release of corticotropin from pituitary gland (By similarity). Induces NLRP6 in intestinal epithelial cells, hence may influence gut microbiota profile (By similarity)
- **CABP4** — Calcium-binding protein 4 [Candidate gene tested in]
  - Função: Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F
- **SCN1A** — Sodium channel protein type 1 subunit alpha [Candidate gene tested 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
- **AP2M1** — AP-2 complex subunit mu [Candidate gene tested in]
  - Função: Component of the adaptor protein complex 2 (AP-2) (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). Adaptor protein complexes function in protein
- **CACNA1H** — Voltage-dependent T-type calcium channel subunit alpha-1H [Candidate gene tested in]
  - Função: Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an o
- **JRK** — Jerky protein homolog [Candidate gene tested in]
  - Função: May bind DNA
- **GABRA1** — Gamma-aminobutyric acid receptor subunit alpha-1 [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:23909897, PubMed:25489750, PubMed:
- **CUX2** — Homeobox protein cut-like 2 [Candidate gene tested 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
- **NEXMIF** — Neurite extension and migration factor [Candidate gene tested in]
  - Função: Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (
- **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

## 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_0020072

## Doenças relacionadas (por similaridade fenotípica)

- [Epilepsia parcial familiar](https://raras.org/doenca/epilepsia-parcial-familiar) — ORPHA:309 — 108 sintomas em comum
- [Encefalopatia epiléptica de início precoce inespecífica](https://raras.org/doenca/encefalopatia-epileptica-de-inicio-precoce-inespecifica) — ORPHA:442835 — 78 sintomas em comum
- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 74 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 73 sintomas em comum
- [Polimicrogiria bilateral](https://raras.org/doenca/polimicrogiria-bilateral) — ORPHA:268940 — 65 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 64 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 60 sintomas em comum
- [Síndrome Rett atípico](https://raras.org/doenca/sindrome-rett-atipico) — ORPHA:3095 — 58 sintomas em comum
- [Síndrome West](https://raras.org/doenca/sindrome-west) — ORPHA:3451 — 54 sintomas em comum
- [Síndrome Lennox-Gastaut](https://raras.org/doenca/sindrome-lennox-gastaut) — ORPHA:2382 — 54 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.

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**Citação sugerida**: Raras.org — Síndrome epilepsia de início na infância. Disponível em: https://raras.org/doenca/sindrome-epilepsia-de-inicio-na-infancia
**Formato HTML**: https://raras.org/doenca/sindrome-epilepsia-de-inicio-na-infancia
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=98259