# Encefalopatia epiléptica e do desenvolvimento infantil precoce

> Página oficial: https://raras.org/doenca/encefalopatia-epileptica-e-do-desenvolvimento-infantil-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**: 1934 — https://www.orpha.net/en/disease/detail/1934
- **CID-10**: G40.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma síndrome de epilepsia que afeta recém-nascidos e bebês pequenos, caracterizada por crises epilépticas (convulsões) frequentes e difíceis de controlar com medicamentos, que começam antes ou até os 3 meses de idade. O eletroencefalograma (EEG) mostra alterações mesmo fora das crises, e o exame neurológico também apresenta resultados incomuns. Em até 80% dos casos, a EIDEE é causada por um problema de base, seja ele estrutural (no formato ou estrutura do cérebro), genético (ligado aos genes) ou metabólico (relacionado ao funcionamento do organismo).

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

## Sinais e sintomas (90 fenótipos HPO)

- **Testa inclinada** — HPO: HP:0000340 (Raro (<5%))
- **Hipotonia neonatal** — HPO: HP:0001319
- **Anormalidade dos potenciais visuais evocados** — HPO: HP:0000649
- **Atrofia cerebral** — HPO: HP:0012444
- **Microcefalia secundária** — HPO: HP:0005484
- **Hipotonia** — HPO: HP:0001252
- **Espasmo epiléptico** — HPO: HP:0011097
- **Estado de mal epiléptico mioclônico** — HPO: HP:0032667
- **Estado de mal epiléptico sem sintomas motores proeminentes** — HPO: HP:0031475
- **Tetraparesia** — HPO: HP:0002273
- **Sinal de Babinski** — HPO: HP:0003487
- **Atrofia cerebral** — HPO: HP:0002059
- **Hipotonia axial** — HPO: HP:0008936
- **Cifoescoliose** — HPO: HP:0002751
- **Irritabilidade** — HPO: HP:0000737
- **Deficiência intelectual, grave** — HPO: HP:0010864
- **Crise mioclônica** — HPO: HP:0032794
- **Hipotonia generalizada** — HPO: HP:0001290
- **Deficiência intelectual, profunda** — HPO: HP:0002187
- **Contratura em flexão** — HPO: HP:0001371
- **Erupção atrasada dos dentes** — HPO: HP:0000684
- **Incapacidade de andar** — HPO: HP:0002540
- **Mielinização atrasada do SNC** — HPO: HP:0002188
- **Nefrocalcinose** — HPO: HP:0000121
- **Maneirismos repetitivos anormais** — HPO: HP:0000733
- **Desconforto respiratório** — HPO: HP:0002098
- **Fala ausente** — HPO: HP:0001344
- **Encefalopatia** — HPO: HP:0001298
- **Defeito do septo ventricular** — HPO: HP:0001629 (Raro (<5%))
- **Hiperreflexia** — HPO: HP:0001347 (Frequente (79-30%))
- **Atrofia cerebelar** — HPO: HP:0001272 (Ocasional (29-5%))
- **EEG com complexos de espícula-onda** — HPO: HP:0010850 (Ocasional (29-5%))
- **Hérnia umbilical** — HPO: HP:0001537 (Raro (<5%))
- **Unha do polegar ausente** — HPO: HP:0012554 (Raro (<5%))
- **Letargia** — HPO: HP:0001254 (Frequente (79-30%))
- **Estrabismo** — HPO: HP:0000486 (Raro (<5%))
- **Falange larga dos dedos do pé** — HPO: HP:0010174 (Raro (<5%))
- **Hipoplasia do corpo caloso** — HPO: HP:0002079 (Ocasional (29-5%))
- **Crise mioclônica generalizada** — HPO: HP:0002123 (Muito frequente (99-80%))
- **Encefalopatia epiléptica** — HPO: HP:0200134 (Muito frequente (99-80%))
- _...e mais 50 sintomas. Ver https://raras.org/doenca/encefalopatia-epileptica-e-do-desenvolvimento-infantil-precoce._

## Genes associados (21)

- **GRIN1** — Glutamate receptor ionotropic, NMDA 1 [Disease-causing germline mutation(s) (loss of function) 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
- **SLC1A2** — Excitatory amino acid transporter 2 [Disease-causing germline mutation(s) in]
  - Função: Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:14506254, PubMed:15265858, PubMed:26690923, PubMed:7521911).
- **PNKP** — Bifunctional polynucleotide phosphatase/kinase [Disease-causing germline mutation(s) 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
- **GRM7** — Metabotropic glutamate receptor 7 [Disease-causing germline mutation(s) 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
- **KCNA1** — Potassium voltage-gated channel subfamily A member 1 [Disease-causing germline mutation(s) 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,
- **SCN1B** — Sodium channel regulatory subunit beta-1 [Disease-causing germline mutation(s) 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 [Disease-causing germline mutation(s) 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
- **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
- **RHOBTB2** — Rho-related BTB domain-containing protein 2 [Disease-causing germline mutation(s) 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
- **PIGQ** — Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q [Disease-causing germline mutation(s) (loss of function) 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 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk
- **SIK1** — Serine/threonine-protein kinase SIK1 [Disease-causing germline mutation(s) in]
  - Função: Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. Phosph
- **CDKL5** — Cyclin-dependent kinase-like 5 [Disease-causing germline mutation(s) in]
  - Função: Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175)
- **GNAO1** — Guanine nucleotide-binding protein G(o) subunit alpha [Disease-causing germline mutation(s) 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
- **TRIM8** — E3 ubiquitin-protein ligase TRIM8 [Disease-causing germline mutation(s) in]
  - Função: E3 ubiquitin-protein ligase that participates in multiple biological processes including cell survival, differentiation, apoptosis, and in particular, the innate immune response (PubMed:27981609, PubM

## Ensaios clínicos ativos (5)

- **NCT06938542** [ENROLLING_BY_INVITATION]: Palliative Care Needs of Children With Rare Diseases and Their Families — https://clinicaltrials.gov/study/NCT06938542
- **NCT04937062** [ACTIVE_NOT_RECRUITING]: Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy — https://clinicaltrials.gov/study/NCT04937062
- **NCT05161494** [ACTIVE_NOT_RECRUITING]: Gait in Rare Diseases — https://clinicaltrials.gov/study/NCT05161494
- **NCT01238250** [RECRUITING]: Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight — https://clinicaltrials.gov/study/NCT01238250
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168

## Doenças relacionadas (por similaridade fenotípica)

- [Encefalopatia mioclônica precoce](https://raras.org/doenca/encefalopatia-mioclonica-precoce) — ORPHA:1935 — 90 sintomas em comum
- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 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
- [Síndrome West](https://raras.org/doenca/sindrome-west) — ORPHA:3451 — 45 sintomas em comum
- [Infantile epileptic spasms syndrome](https://raras.org/doenca/infantile-epileptic-spasms-syndrome) — ORPHA:697160 — 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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