# Encefalopatia mioclônica precoce

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

## Identificadores

- **ORPHA**: 1935 — https://www.orpha.net/en/disease/detail/1935
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Síndrome epiléptica neonatal/infantil caracterizada por convulsões frequentes resistentes a medicamentos que começam ≤3 meses de idade, com EEG interictal e exame neurológico anormais. Em até 80% dos pacientes, o EIDEE é causado por uma razão estrutural, genética ou metabólica subjacente.

## Epidemiologia e herança


## Sinais e sintomas (90 fenótipos HPO)

- **Hérnia umbilical** — HPO: HP:0001537
- **Dedo largo** — HPO: HP:0001500
- **Testa inclinada** — HPO: HP:0000340
- **Fissura palatina** — HPO: HP:0000175
- **Estrabismo** — HPO: HP:0000486
- **Displasia renal** — HPO: HP:0000110
- **Ureterocele** — HPO: HP:0000070
- **Paquigiria** — HPO: HP:0001302
- **Atrofia cerebelar** — HPO: HP:0001272
- **Hipotonia do lactente** — HPO: HP:0008947
- **Deficiência intelectual** — HPO: HP:0001249
- **Falange larga dos dedos do pé** — HPO: HP:0010174
- **Puberdade precoce** — HPO: HP:0000826
- **Convulsão febril (na faixa etária de 3 meses a 6 anos)** — HPO: HP:0002373
- **Anormalidades difusas da substância branca** — HPO: HP:0007204
- **Atrofia cerebral difusa** — HPO: HP:0002506
- **Tremor** — HPO: HP:0001337
- **Mioclonias** — HPO: HP:0001336
- **Coreoatetose** — HPO: HP:0001266
- **Hiperatividade** — HPO: HP:0000752
- **Comportamento autista** — HPO: HP:0000729
- **Disfagia** — HPO: HP:0002015
- **Dedo curto** — HPO: HP:0009381
- **Ponte nasal deprimida** — HPO: HP:0005280
- **Narinas antevertidas** — HPO: HP:0000463
- **Comportamento autolesivo** — HPO: HP:0100716
- **Espasmos infantis** — HPO: HP:0012469
- **Crise clônica generalizada** — HPO: HP:0011169
- **EEG com complexos de espícula-onda** — HPO: HP:0010850
- **Déficit de crescimento** — HPO: HP:0001508
- **Descargas epileptiformes multifocais uni e bilaterais** — HPO: HP:0011190
- **Crise atônica** — HPO: HP:0010819
- **Infecções respiratórias recorrentes** — HPO: HP:0002205
- **Sucção pobre** — HPO: HP:0002033
- **Crise motora focal** — HPO: HP:0011153
- **Distonia** — HPO: HP:0001332
- **Crise não motora (ausência) generalizada** — HPO: HP:0002121
- **Controle cefálico pobre** — HPO: HP:0002421
- **Unha do polegar ausente** — HPO: HP:0012554
- **Defeito do septo ventricular** — HPO: HP:0001629
- _...e mais 50 sintomas. Ver https://raras.org/doenca/encefalopatia-mioclonica-precoce._

## Genes associados (21)

- **SLC25A22** — Mitochondrial glutamate carrier 1 [Disease-causing germline mutation(s) in]
  - Função: Mitochondrial glutamate/H(+) symporter. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (PubMed:11897791). Plays a rol
- **SCN1B** — Sodium channel regulatory subunit beta-1 [Candidate gene tested in]
  - Função: Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (volta
- **ARX** — Homeobox protein ARX [Candidate gene tested in]
  - Função: Transcription factor (PubMed:22194193, PubMed:31691806). Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes, such as histone demethylase KDM5C (PubMed:22194193, PubMe
- **PIGP** — Phosphatidylinositol N-acetylglucosaminyltransferase subunit P [Candidate gene tested in]
  - Função: Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and p
- **CASK** — Kappa-casein [Candidate gene tested in]
  - Função: Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk
- **RHOBTB2** — Rho-related BTB domain-containing protein 2 [Candidate gene tested in]
  - Função: Regulator of cell proliferation and apoptosis (PubMed:21801820). It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degrad
- **CACNA1E** — Voltage-dependent R-type calcium channel subunit alpha-1E [Candidate gene tested in]
  - Função: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle
- **PNKP** — Bifunctional polynucleotide phosphatase/kinase [Candidate gene tested in]
  - Função: Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways (PubMed:10446192, PubMed:10446193, PubMed:153859
- **KCNA1** — Potassium voltage-gated channel subfamily A member 1 [Candidate gene tested in]
  - Função: Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818,
- **NEUROD2** — Neurogenic differentiation factor 2 [Candidate gene tested in]
  - Função: Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repressio
- **SLC32A1** — Vesicular inhibitory amino acid transporter [Candidate gene tested in]
  - Função: Antiporter that exchanges vesicular protons for cytosolic 4-aminobutanoate or to a lesser extend glycine, thus allowing their secretion from nerve terminals. The transport is equally dependent on the
- **SCN2A** — Sodium channel protein type 2 subunit alpha [Candidate gene tested in]
  - Função: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a so
- **GRM7** — Metabotropic glutamate receptor 7 [Candidate gene tested in]
  - Função: G-protein coupled receptor activated by glutamate that regulates axon outgrowth through the MAPK-cAMP-PKA signaling pathway during neuronal development (PubMed:33500274). Ligand binding causes a confo
- **PIGQ** — Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q [Candidate gene tested in]
  - Função: Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and p
- **CDKL5** — Cyclin-dependent kinase-like 5 [Candidate gene tested in]
  - Função: Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175)

## Ensaios clínicos ativos (2)

- **NCT03655223** [ENROLLING_BY_INVITATION]: Early Check: Expanded Screening in Newborns — https://clinicaltrials.gov/study/NCT03655223
- **NCT00006176** [COMPLETED]: Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies — https://clinicaltrials.gov/study/NCT00006176

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 90 sintomas em comum
- [Encefalopatia epiléptica e do desenvolvimento infantil precoce](https://raras.org/doenca/encefalopatia-epileptica-e-do-desenvolvimento-infantil-precoce) — ORPHA:1934 — 90 sintomas em comum
- [Encefalopatia epiléptica de início precoce inespecífica](https://raras.org/doenca/encefalopatia-epileptica-de-inicio-precoce-inespecifica) — ORPHA:442835 — 62 sintomas em comum
- [Infantile epileptic spasms syndrome](https://raras.org/doenca/infantile-epileptic-spasms-syndrome) — ORPHA:697160 — 45 sintomas em comum
- [Síndrome West](https://raras.org/doenca/sindrome-west) — ORPHA:3451 — 45 sintomas em comum
- [Síndrome Rett atípico](https://raras.org/doenca/sindrome-rett-atipico) — ORPHA:3095 — 42 sintomas em comum
- [Lisencefalia clássica](https://raras.org/doenca/lisencefalia-classica) — ORPHA:102009 — 37 sintomas em comum
- [Polimicrogiria bilateral](https://raras.org/doenca/polimicrogiria-bilateral) — ORPHA:268940 — 36 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 35 sintomas em comum
- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 34 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 — Encefalopatia mioclônica precoce. Disponível em: https://raras.org/doenca/encefalopatia-mioclonica-precoce
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