# Epilepsia parcial familiar

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

## Identificadores

- **ORPHA**: 309 — https://www.orpha.net/en/disease/detail/309
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um caso de epilepsia parcial que é causada por uma alteração genética herdada no DNA da pessoa.

## Epidemiologia e herança


## Sinais e sintomas (108 fenótipos HPO)

- **Auras epigástricas** — HPO: HP:0011159
- **Anormalidade interictal no EEG** — HPO: HP:0025373
- **Descargas epileptiformes multifocais** — HPO: HP:0010841
- **Afasia motora** — HPO: HP:0002427
- **Palidez** — HPO: HP:0000980
- **Polimicrogiria** — HPO: HP:0002126
- **Rubor** — HPO: HP:0031284
- **Espasmos infantis** — HPO: HP:0012469
- **Hipsarritmia** — HPO: HP:0002521
- **Dor** — HPO: HP:0012531
- **Parassonia do sono não REM** — HPO: HP:0025235
- **Comprometimento cognitivo** — HPO: HP:0100543
- **Ideação suicida** — HPO: HP:0031589
- **Convulsões hipercinéticas** — HPO: HP:0011174
- **Hiperventilação** — HPO: HP:0002883
- **Incontinência urinária** — HPO: HP:0000020
- **Movimentos involuntários** — HPO: HP:0004305
- **Aumento da atividade de frequência teta no EEG** — HPO: HP:0031535
- **Sonambulismo** — HPO: HP:0025236
- **Maneirismos repetitivos anormais** — HPO: HP:0000733
- **Deficiência intelectual, leve** — HPO: HP:0001256
- **EEG com espículas focais** — HPO: HP:0011193
- **Distonia paroxística** — HPO: HP:0002268
- **Atividade epileptiforme interictal** — HPO: HP:0011182
- **Dificuldades de articulação da fala** — HPO: HP:0009088
- **Labilidade emocional** — HPO: HP:0000712
- **Apneia do sono** — HPO: HP:0010535
- **Crise clônica hemifacial focal** — HPO: HP:0007332
- **Sialorreia** — HPO: HP:0002307
- **EEG com complexos de espícula e onda generalizados irregulares** — HPO: HP:0001326
- **Disestesia** — HPO: HP:0012534
- **Crise de ausência atípica** — HPO: HP:0007270
- **Dificuldade específica de aprendizagem** — HPO: HP:0001328
- **Ansiedade** — HPO: HP:0000739
- **Estado de mal epiléptico febril** — HPO: HP:0032656
- **Laringoespasmo** — HPO: HP:0025425
- **Déficit de atenção** — HPO: HP:0000736
- **Impulsividade** — HPO: HP:0100710
- **Enxaqueca** — HPO: HP:0002076
- **Anormalidade em imagem cerebral** — HPO: HP:0410263
- _...e mais 68 sintomas. Ver https://raras.org/doenca/epilepsia-parcial-familiar._

## Genes associados (19)

- **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
- **GRIN2A** — Glutamate receptor ionotropic, NMDA 2A [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
- **GABRG2** — Gamma-aminobutyric acid receptor subunit gamma-2 [Candidate gene tested in]
  - Função: Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:16412217, PubMed:
- **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
- **SRPX2** — Sushi repeat-containing protein SRPX2 [Candidate gene tested in]
  - Função: Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved i
- **GAL** — Galanin peptides [Disease-causing germline mutation(s) in]
  - Função: Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. This small neuropeptide may regulate diverse physiolog
- **CHRNB2** — Neuronal acetylcholine receptor subunit beta-2 [Disease-causing germline mutation(s) in]
  - Função: Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasn
- **CHRNA4** — Neuronal acetylcholine receptor subunit alpha-4 [Disease-causing germline mutation(s) in]
  - Função: Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasn
- **KCNT1** — Potassium channel subfamily T member 1 [Disease-causing germline mutation(s) 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
- **LGI1** — Leucine-rich glioma-inactivated protein 1 [Disease-causing germline mutation(s) in]
  - Função: Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 th
- **NPRL3** — GATOR1 complex protein NPRL3 [Disease-causing germline mutation(s) in]
  - Função: As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:29590090, PubMed:35338845). In response to amino acid dep
- **NPRL2** — GATOR1 complex protein NPRL2 [Disease-causing germline mutation(s) in]
  - Função: Catalytic component of the GATOR1 complex, a multiprotein complex that functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:29590090, PubMed:353388

## Medicamentos em desenvolvimento (1)

- NALUZOTAN — Fase Phase 2 (Serotonin 1a (5-HT1a) receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0017704

## Ensaios clínicos ativos (2)

- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT01403402** [RECRUITING]: Congenital Muscle Disease Study of Patient and Family Reported Medical Information — https://clinicaltrials.gov/study/NCT01403402

## Doenças relacionadas (por similaridade fenotípica)

- [Epilepsia parcial familiar com focos variáveis](https://raras.org/doenca/epilepsia-parcial-familiar-com-focos-variaveis) — ORPHA:98820 — 39 sintomas em comum
- [Encefalopatia epiléptica de início precoce inespecífica](https://raras.org/doenca/encefalopatia-epileptica-de-inicio-precoce-inespecifica) — ORPHA:442835 — 34 sintomas em comum
- [Polimicrogiria bilateral](https://raras.org/doenca/polimicrogiria-bilateral) — ORPHA:268940 — 33 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 32 sintomas em comum
- [Epilepsia noturna do lobo frontal autossômica dominante](https://raras.org/doenca/epilepsia-noturna-do-lobo-frontal-autossomica-dominante) — ORPHA:98784 — 32 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 31 sintomas em comum
- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 27 sintomas em comum
- [Encefalopatia epiléptica e do desenvolvimento CNTNAP2-relacionada](https://raras.org/doenca/encefalopatia-epileptica-e-do-desenvolvimento-cntnap2-relacionada) — ORPHA:163681 — 26 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 26 sintomas em comum
- [Síndrome de Kleefstra](https://raras.org/doenca/sindrome-de-kleefstra) — ORPHA:261494 — 25 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 — Epilepsia parcial familiar. Disponível em: https://raras.org/doenca/epilepsia-parcial-familiar
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