# Infantile epileptic spasms syndrome

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

## Identificadores

- **ORPHA**: 697160 — https://www.orpha.net/en/disease/detail/697160
- **CID-10**: G40.4

## Descrição clínica

A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.

## Epidemiologia e herança


## Sinais e sintomas (118 fenótipos HPO)

- **Espasmos infantis** — HPO: HP:0012469 (Muito frequente (99-80%))
- **Cifose** — HPO: HP:0002808
- **Infecções recorrentes do trato respiratório inferior** — HPO: HP:0002783
- **Apneia** — HPO: HP:0002104
- **Hálux valgo** — HPO: HP:0001822
- **Crises paroxísticas de riso** — HPO: HP:0000749
- **Sinofris** — HPO: HP:0000664
- **Exotropia** — HPO: HP:0000577
- **Esotropia** — HPO: HP:0000565
- **Testa alta** — HPO: HP:0000348
- **Testa estreita** — HPO: HP:0000341
- **Hipersensibilidade tátil** — HPO: HP:5200061
- **Frieza** — HPO: HP:0033850
- **Borda do vermelhão espessa** — HPO: HP:0012471
- **Torção estereotipada das mãos** — HPO: HP:0012171
- **Alimentação por gastrostomia na infância** — HPO: HP:0011471
- **Atraso global do desenvolvimento moderado** — HPO: HP:0011343
- **Descargas epileptiformes multifocais** — HPO: HP:0010841
- **Falanges proximais largas da mão** — HPO: HP:0009852
- **Sensação de dor prejudicada** — HPO: HP:0007328
- **Distúrbio do ciclo sono-vigília** — HPO: HP:0006979
- **Tônus muscular anormal** — HPO: HP:0003808
- **Bruxismo** — HPO: HP:0003763
- **Atraso no desenvolvimento motor grosso** — HPO: HP:0002194
- **Filtro labial profundo** — HPO: HP:0002002
- **Distúrbio da marcha** — HPO: HP:0001288
- **Atraso no desenvolvimento da fala e da linguagem** — HPO: HP:0000750
- **Comportamento autista** — HPO: HP:0000729
- **Vermelhão do lábio inferior evertido** — HPO: HP:0000232
- **Crise tônica generalizada** — HPO: HP:0010818
- **Crise clônica focal** — HPO: HP:0002266
- **Volume reduzido da substância branca cerebral** — HPO: HP:0034295
- **Crise atônica** — HPO: HP:0010819
- **Hipomielinização do SNC** — HPO: HP:0003429
- **Atrofia/Degeneração afetando o tronco cerebral** — HPO: HP:0007366
- **Deficiência intelectual, grave** — HPO: HP:0010864
- **Atrofia cerebelar** — HPO: HP:0001272
- **Hipoplasia do corpo caloso** — HPO: HP:0002079
- **Atrofia cerebral** — HPO: HP:0002059
- **Irritabilidade** — HPO: HP:0000737
- _...e mais 78 sintomas. Ver https://raras.org/doenca/infantile-epileptic-spasms-syndrome._

## Genes associados (13)

- **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
- **SPTAN1** — Spectrin alpha chain, non-erythrocytic 1 [Disease-causing germline mutation(s) in]
  - Função: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane
- **CNPY3** — Protein canopy homolog 3 [Disease-causing germline mutation(s) in]
  - Função: Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for
- **GRIN2B** — Glutamate receptor ionotropic, NMDA 2B [Disease-causing germline mutation(s) (gain 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
- **GUF1** — Translation factor GUF1, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Bind
- **SCN2A** — Sodium channel protein type 2 subunit alpha [Disease-causing germline mutation(s) 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
- **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)
- **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
- **PHACTR1** — Phosphatase and actin regulator 1 [Disease-causing germline mutation(s) in]
  - Função: Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of t
- **PLCB1** — 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 [Disease-causing germline mutation(s) 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
- **WDR45** — WD repeat domain phosphoinositide-interacting protein 4 [Disease-causing germline mutation(s) in]
  - Função: Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradatio
- **PIGA** — Phosphatidylinositol N-acetylglucosaminyltransferase subunit A [Disease-causing germline mutation(s) in]
  - Função: Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidyli
- **NTRK2** — BDNF/NT-3 growth factors receptor [Disease-causing germline mutation(s) in]
  - Função: Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiati

## Medicamentos em desenvolvimento (10)

- GANAXOLONE — Fase APPROVAL (GABA-A receptor; anion channel positive allosteric modulator)
- CORTICOTROPIN — Fase APPROVAL (Melanocortin receptor 2 agonist)
- VIGABATRIN — Fase APPROVAL (Gamma-amino-N-butyrate transaminase inhibitor)
- PREDNISOLONE — Fase PHASE_3 (Glucocorticoid receptor agonist)
- CANNABIDIOL — Fase PHASE_3 (Cannabinoid CB1 receptor negative allosteric modulator)
- PYRIDOXINE — Fase PHASE_3
- RADIPRODIL — Fase PHASE_2 (Glutamate NMDA receptor; GRIN1/GRIN2B antagonist)
- CPP-115 — Fase PHASE_1
- BLARCAMESINE HYDROCHLORIDE — Fase PHASE_1
- BLARCAMESINE — Fase PHASE_1
- Fonte: https://platform.opentargets.org/disease/MONDO_0018097

## Ensaios clínicos ativos (1)

- **NCT06819670** [RECRUITING]: A Study to Prevent Infantile Spasms Relapse — https://clinicaltrials.gov/study/NCT06819670

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 116 sintomas em comum
- [Síndrome West](https://raras.org/doenca/sindrome-west) — ORPHA:3451 — 116 sintomas em comum
- [Síndrome Rett atípico](https://raras.org/doenca/sindrome-rett-atipico) — ORPHA:3095 — 80 sintomas em comum
- [Doença devido a deficiência CDKL5](https://raras.org/doenca/505652) — ORPHA:505652 — 71 sintomas em comum
- [Encefalopatia epiléptica de início precoce inespecífica](https://raras.org/doenca/encefalopatia-epileptica-de-inicio-precoce-inespecifica) — ORPHA:442835 — 60 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 48 sintomas em comum
- [Encefalopatia epiléptica e do desenvolvimento infantil precoce](https://raras.org/doenca/encefalopatia-epileptica-e-do-desenvolvimento-infantil-precoce) — ORPHA:1934 — 45 sintomas em comum
- [Encefalopatia mioclônica precoce](https://raras.org/doenca/encefalopatia-mioclonica-precoce) — ORPHA:1935 — 45 sintomas em comum
- [Síndrome de perturbação do desenvolvimento intelectual-apneia do sono obstrutiva-dismorfia ligeira AHDC1-relacionada](https://raras.org/doenca/sindrome-de-perturbacao-do-desenvolvimento-intelectual-apneia-do-sono-obstrutiva-dismorfia-ligeira-ahdc1-relacionada) — ORPHA:412069 — 44 sintomas em comum
- [Polimicrogiria bilateral](https://raras.org/doenca/polimicrogiria-bilateral) — ORPHA:268940 — 44 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 — Infantile epileptic spasms syndrome. Disponível em: https://raras.org/doenca/infantile-epileptic-spasms-syndrome
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