Uma síndrome epiléptica rara caracterizada pelo início de espasmos epilépticos em bebês entre 2 e 12 meses de idade, e raramente até 24 meses. Os lactentes podem não apresentar histórico prévio ou apresentar histórico que reflete a causa subjacente. A tríade clássica de espasmos epilépticos, hipsarritmia e estagnação ou regressão do desenvolvimento é historicamente referida como síndrome de West.
Introdução
O que você precisa saber de cara
Visão geral
A síndrome dos espasmos epilépticos infantis (Infantile epileptic spasms syndrome) é uma síndrome epiléptica rara caracterizada pelo início de espasmos epilépticos tipicamente em bebês entre 2 e 12 meses de idade, podendo ocorrer raramente até os 24 meses. Os lactentes podem não apresentar histórico clínico prévio ou exibir manifestações que refletem a causa subjacente da condição. A tríade clássica composta por espasmos epilépticos, hipsarritmia e estagnação ou regressão do desenvolvimento é historicamente referida como síndrome de West.[1][2]
Sinais e sintomas
O quadro clínico inclui manifestações neurológicas e do desenvolvimento, tais como espasmos infantis, descargas epileptiformes multifocais, crises paroxísticas de riso, atraso global do desenvolvimento moderado, atraso no desenvolvimento motor grosso, tônus muscular anormal, distúrbio do ciclo sono-vigília, hipersensibilidade tátil, sensação de dor prejudicada e bruxismo.[1][2]
Outras manifestações físicas e funcionais descritas abrangem infecções recorrentes do trato respiratório inferior, apneia, necessidade de alimentação por gastrostomia na infância, torção estereotipada das mãos, cifose, hálux valgo e falanges proximais largas da mão. Características craniofaciais e oculares podem incluir sinofris, testa alta ou estreita, exotropia, esotropia, borda do vermelhão espessa, filtro labial profundo e frieza periférica.[1][2]
Causas genéticas
Diagnóstico
Tratamento e manejo
No Sistema Único de Saúde (SUS), o manejo da condição conta com medicamentos antiepilépticos dispensados por meio do Protocolo Clínico e Diretrizes Terapêuticas (PCDT) de Epilepsia (Portaria Conjunta SAS-SCTIE/MS nº 17, de 21 de junho de 2018). Estão disponíveis para fornecimento nas farmácias do SUS: vigabatrina (comprimido de 500 mg), ácido valproico (comprimido de 250 mg) e valproato de sódio (apresentações em xarope 50 mg/mL, comprimidos de 250 mg e 500 mg, e cápsula de 250 mg).[6][6][6][6][6][6]
O PCDT de Epilepsia também contempla a dispensação pública de outros fármacos anticonvulsivantes, como topiramato (comprimidos de 25 mg, 50 mg e 100 mg), primidona (comprimidos de 100 mg e 250 mg) e levetiracetam (solução oral de 100 mg/mL e comprimidos de 250 mg, 500 mg e 750 mg).[6][6][6][6][6][6][6][6][6]
Tratamentos citados na literatura
Na literatura científica biomédica, são identificadas associações com compostos e fármacos a partir de mineração automatizada de dados, sem constituir recomendação terapêutica: serotonina (6 publicações), fenobarbital (5 publicações), polialanina (4 publicações), levetiracetam (4 publicações), vigabatrina (4 publicações), fenitoína (3 publicações), fosfato de piridoxal (3 publicações), acetilcolina (2 publicações), fenfluramina (2 publicações) e glicose (2 publicações).[5]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
O transtorno de deficiência de CDKL5 é caracterizado por crises que começam na infância, seguidas de atrasos significativos em muitos aspectos do desenvolvimento.
As crises no transtorno de deficiência de CDKL5 geralmente começam dentro dos primeiros 3 meses de vida e podem aparecer já na primeira semana após o nascimento. Os tipos de crises mudam com a idade e podem seguir um padrão previsível. Os tipos mais comuns são crises tônico-clônicas generalizadas, que envolvem perda de consciência, rigidez muscular e convulsões; crises tônicas, que são caracterizadas por contrações musculares anormais; e espasmos epilépticos, que envolvem episódios curtos de sacudidas musculares. As crises ocorrem diariamente na maioria das pessoas com transtorno de deficiência de CDKL5, embora possam haver períodos em que ficam sem crises. As crises no transtorno de deficiência de CDKL5 geralmente não melhoram com o tratamento.
O desenvolvimento é prejudicado em crianças com transtorno de deficiência de CDKL5. A maioria apresenta deficiência intelectual grave e pouca ou nenhuma fala. O desenvolvimento das habilidades motoras grossas, como sentar, ficar em pé e caminhar, é atrasado ou não é alcançado. Cerca de um terço dos indivíduos afetados consegue caminhar de forma independente. As habilidades motoras finas, como pegar objetos pequenos com os dedos, também são prejudicadas; cerca de metade dos indivíduos afetados tem uso intencional das mãos. A maioria das pessoas com essa condição tem problemas de visão (deficiência visual cortical).
Outras características comuns do transtorno de deficiência de CDKL5 incluem movimentos repetitivos das mãos (estereotipias), como bater palmas, lamber as mãos e chupar as mãos; ranger de dentes (bruxismo); sono interrompido; dificuldades de alimentação; e problemas gastrointestinais, incluindo constipação e refluxo de conteúdo ácido do estômago para o esôfago (refluxo gastroesofágico). Alguns indivíduos afetados apresentam episódios de respiração irregular. Características faciais distintivas em algumas pessoas com transtorno de deficiência de CDKL5 incluem testa alta e larga, olhos grandes e profundos, um espaço bem definido entre o nariz e o lábio superior (filtrum), lábios cheios, dentes espaçados e palato alto. Outras diferenças físicas também podem ocorrer, como tamanho de cabeça incomumente pequeno (microcefalia), curvatura lateral da coluna (escoliose) e dedos afinados.
O transtorno de deficiência de CDKL5 foi anteriormente classificado como uma forma atípica da síndrome de Rett. Essas condições têm características comuns, incluindo crises, deficiência intelectual e outros problemas de desenvolvimento. No entanto, os sinais e sintomas associados ao transtorno de deficiência de CDKL5 e sua causa genética são distintos dos da síndrome de Rett, e o transtorno de deficiência de CDKL5 agora é considerado uma condição separada.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoUma síndrome epiléptica rara caracterizada pelo início de espasmos epilépticos em bebês entre 2 e 12 meses de idade, e raramente até 24 meses. Os lactentes podem não apresentar histórico prévio ou apresentar histórico que reflete a causa subjacente. A tríade clássica de espasmos epilépticos, hipsarritmia e estagnação ou regressão do desenvolvimento é historicamente referida como síndrome de West.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 43 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 118 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
13 genes identificados com associação a esta condição.
Lissencephaly, X-linked 2
A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia.
Developmental and epileptic encephalopathy 5
A disorder characterized by seizures associated with hypsarrhythmia, profound intellectual disability with lack of visual attention and speech development, as well as spastic quadriplegia.
Developmental and epileptic encephalopathy 60
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE60 is an autosomal recessive condition characterized by onset of seizures in the first months of life.
Intellectual developmental disorder, autosomal dominant 6, with or without seizures
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD6 additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features.
Developmental and epileptic encephalopathy 40
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE40 inheritance is autosomal recessive.
Seizures, benign familial infantile, 3
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant.
Developmental and epileptic encephalopathy 30
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.
Developmental and epileptic encephalopathy 70
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE70 is an autosomal dominant form with onset in first months of life and variable severity.
Developmental and epileptic encephalopathy 12
A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.
Neurodegeneration with brain iron accumulation 5
A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability.
Paroxysmal nocturnal hemoglobinuria 1
A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
Developmental and epileptic encephalopathy 58
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE58 is an autosomal dominant condition characterized by onset of refractory seizures in the first days or months of life.
Medicamentos e terapias
Mecanismo: GABA-A receptor; anion channel positive allosteric modulator
Mecanismo: Melanocortin receptor 2 agonist
Mecanismo: Gamma-amino-N-butyrate transaminase inhibitor
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Cannabinoid CB1 receptor negative allosteric modulator
Mecanismo: Glutamate NMDA receptor; GRIN1/GRIN2B antagonist
Variantes genéticas (ClinVar)
816 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
53 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Infantile epileptic spasms syndrome
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 1 país. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
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Outros ensaios clínicos
23 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Effectiveness, tolerability, and retention of the ketogenic diet for infantile epileptic spasms syndrome: a single-center cohort study.
This study aimed to investigate the effectiveness, tolerability, and retention of the ketogenic diet (KD) in patients with infantile epileptic spasms syndrome (IESS). In this single-center prospective cohort study, baseline data were collected from the Children's Hospital Affiliated to Shandong University. Follow-up assessments were conducted at 3, 6, and 12 months after initiating KD. Outcomes included seizure frequency, adverse reactions, and retention rates. Survival analysis was performed to examine the association between retention rates and follow-up duration. A total of 74 patients with IESS were admitted. The seizure response rates were 56.8% (42/74), 41.9% (31/74), and 25.7% (19/74) at 3, 6, and 12 months, respectively. The corresponding seizure-free rates were 13.5% (10/74), 13.5% (10/74), and 8.1% (8/74), respectively. Retention rates at 3, 6, and 12 months were 70.2% (52/74), 43.2% (32/74), and 25.7% (19/74), respectively. Survival analysis indicated that retention rates decreased over time, most markedly within the first 3 months. Responders to the KD exhibited significantly higher retention rates than non-responders throughout the 12 months (HR = 0.35, 95% CI: 0.19-0.64; p < 0.001). Adverse reactions were reported in 20.3% of patients, with gastrointestinal symptoms being the most common (16.2%), including constipation (6.8%), diarrhea (5.4%), and vomiting (4.0%). The KD demonstrated favorable effectiveness and an acceptable safety profile in patients with IESS, particularly in those who did not respond to first-line antiseizure medications (ASMs). The higher retention rates among responders supports its utility in children with IESS. Therefore, early initiation of the KD should be considered for IESS patients who do not respond to first-line ASMs.
Deep learning-based real-time seizure detection and multi-seizure classification on pediatric EEG.
To develop a reliable and accurate seizure detection method using deep learning models capable of detecting and classifying multiple seizure types in real time. We retrospectively collected electroencephalography (EEG) recordings, which were acquired as part of routine diagnostic tests for patients aged 3 months to ≤18 years of age with childhood absence epilepsy, infantile epileptic spasms syndrome, other generalized epilepsy, and focal epilepsy, between January 2018 and December 2022 at Severance Children's Hospital. We used EEG recordings from both seizure and non-seizure patients, which were downsampled to 200 Hz for real-time seizure detection and multi-classification. Of the 199 patients (620 seizures), 49 (297 seizures) belonged to the childhood absence epilepsy group, 16 (200 seizures) to the infantile epileptic spasms syndrome group, 14 (76 seizures) to other generalized epilepsy group, 19 (47 seizures) to focal epilepsy group, and 101 to the normal group. The results showed the best overall performance of AUROC 0.98 and APROC of 0.73 with ResNet with Long-Short Term Network and a 12 s sliding window on real-time seizure detection task. Furthermore, ResNet50 without the frequency bands feature extractor showed the best overall weighted performance for multi-class seizure detection with 0.99 AUROC and 0.99 APPRC. Our approach proposes robust methods which include EEG preprocessing strategy with real-time detection/classification of multiple seizures, which helps monitor pediatric seizure. The result shows that real-time seizure detection can be effectively applied to real-world clinical datasets from a pediatric epilepsy unit with realistic performance and speed.
Analysis of treatment outcome variations in infantile epileptic spasms syndrome.
To explore the key factors influencing outcomes in children with infantile epileptic spasms syndrome (IESS) and to elucidate their interrelationships to provide insights for optimizing clinical practice. This is a retrospective, single-center design study, included children diagnosed with IESS at West China Second Hospital of Sichuan University from April 2019 to April 2024. Descriptive analyses were performed to evaluate genetic and non-genetic etiological subgroups, categorized as structural and unknown causes. Genetic testing results were compared across groups. Pearson correlation and logistic regression analyses were employed to examine differences in treatment efficacy and identify associated risk factors. In this study, 128 children diagnosed with IESS were enrolled and evenly divided into gene-positive and gene-negative groups. The gene-positive group exhibited earlier seizure onset, with a higher prevalence of hypotonia and developmental regression compared to the gene-negative group. Within the gene-negative group, children were further categorized into structural abnormality and unknown causes subgroups, among which EEG hypsarrhythmia was more frequently observed in the structural abnormality subgroup. The gene-positive group showed significantly poorer responses to ACTH, vigabatrin, and other ASMs. ACTH combined with vigabatrin therapy improved outcomes in some of the children. The non-ACTH treatment group demonstrated superior EEG improvement outcomes when compared with the ACTH-treated group (p = 0.028). The overall therapeutic response rate was satisfactory, with 75% in the gene-positive group and 100% in the gene-negative group. In the gene-negative group, frequent seizures and developmental regression emerged as significant risk factors for poor treatment response. The prognosis for IESS remains challenging, with treatment responses closely tied to etiology. Children with genetic etiologies demonstrate poorer responses to ACTH and other ASMs. However, ACTH combination with vigabatrin may improve treatment outcomes in some cases. Our findings suggest that ACTH treatment may not exert a substantial influence on long-term EEG outcomes in children with IESS.
Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.
Infantile epileptic spasms syndrome (IESS) is a severe form of infantile epilepsy with a high lifetime morbidity burden. We aimed to assess the long-term epilepsy and neurodevelopmental outcomes based on how children with IESS have been managed over the past few decades. This retrospective multicenter study included children diagnosed with IESS between 1994 and 2021 with a minimum follow-up period of 2 years. Data on demographics, clinical features, medical history, diagnostic evaluations, and treatments used to control spasms were collected. Epilepsy and neurodevelopmental outcomes were assessed at final follow-up. A total of 378 infants with IESS were included. The mean age at onset of spasms was 7.3 (range, 1-24) months and mean follow-up duration was 7.9 (range, 2-28) years. Etiologies were identified in 65.1% of cases, with acquired structural etiologies being the most prevalent (29.9%). Among the genetic and genetic-structural etiologies, tuberous sclerosis complex (n=35), Down syndrome (n=8), Miller-Dieker syndrome (n=3), and 15q duplication syndrome (n=3) were the most common. Vigabatrin was prescribed to 93.9% of the patients, suggesting that it was the mainstay of treatment. At the last follow-up, 77.8% of the children remained on antiseizure medications and 29.1% had drug-resistant epilepsy. Approximately 90% had intellectual disabilities, and half of the eligible individuals had received special education. The IESS imposes a substantial burden on affected children and their families and often leads to chronic epilepsy and impaired cognitive function. Consensus diagnostic and treatment guidelines tailored to the Korean clinical practice are necessary to ensure early diagnosis and timely treatment.
Does First-Line Treatment Impact Outcomes in Trisomy 21-Associated Infantile Epileptic Spasms Syndrome? A Multicenter North American Analysis.
This study aimed to evaluate electroclinical remission and long-term outcomes in children with infantile epileptic spasms syndrome (IESS) associated with trisomy 21 (T21). We hypothesized that initial treatment with hormone therapy would result in higher remission rates compared to treatment with vigabatrin. A retrospective study of T21 and IESS patients was conducted across six North American tertiary pediatric centers. A total of 114 children with IESS were identified. Electroclinical remission without relapse occurred in 31.5% (17/54) of patients receiving hormone therapy as first-line treatment compared with 16.7% (6/36) treated with vigabatrin monotherapy (P = 0.114). Median time to remission was shorter with hormone therapy (41 days) than with vigabatrin (142 days; P < 0.001). Median age at last follow-up was 33 months (IQR 18-83) with a median follow-up duration of 25 months (IQR 11-74). At last follow-up, ongoing epilepsy was present in 30.7% (35/114) and autism spectrum disorder (ASD) in 25.4% (29/114), with similar rates across first-line treatment groups (ongoing epilepsy: hormonal 28.6% vs vigabatrin 30.6%; ASD: 21.4% vs 33.3%; all P > 0.05). Children with T21-associated IESS were approximately two times more likely to achieve electroclinical remission with hormone therapy as first treatment compared to vigabatrin, although this difference did not reach statistical significance. The median time to remission was significantly shorter in children who received hormone therapy as their first treatment compared to those treated with vigabatrin. The initial treatment did not impact long-term clinical outcomes, such as ongoing epilepsy or ASD.
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European journal of neurologyHippocampal proteomic signatures of the ketogenic diet in a model of infantile epileptic spasms syndrome.
Biochimica et biophysica acta. Molecular basis of diseaseAlpha-ERSP as a prognostic biomarker in infantile epileptic spasms syndrome: Insights from quantitative EEG analysis.
SeizureVigabatrin Versus Adrenocorticotropic Hormone After High-Dose Prednisolone Failure for the Treatment of Epileptic Spasms.
Journal of child neurologyBeyond Myoclonus-Seizures, Epilepsy Syndromes and Atypical Electroencephalographic (EEG) Findings in Children With Subacute Sclerosing Panencephalitis.
Journal of child neurologyTUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures.
Epileptic disorders : international epilepsy journal with videotapeAFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyBrain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery.
Epilepsy & behavior reportsEfficacy and tolerability of magnesium sulfate in children with infantile epileptic spasms syndrome: A systematic review and meta-analysis.
Epilepsy researchInfantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review.
Frontiers in pediatricsRole of the Ketogenic Diet Therapy and ACTH as Second Treatments in Drug-Resistant Infantile Epileptic Spasms Syndrome.
NutrientsElectroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study.
Journal of child neurologyA Novel Gene (UFSP2) Associated with Infantile Epileptic Spasms Syndrome.
Indian journal of pediatricsSafety, Efficacy, and Tolerability of Ketogenic Diet Versus Adrenocorticotropic Hormone in Infantile Epileptic Spasms Syndrome: A Randomized Controlled Trial.
Pediatric neurologyNew variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy.
Frontiers in neuroscienceComparative effectiveness of second-line treatments for epileptic spasms.
EpilepsiaDiffusion MRI biomarkers for predicting treatment outcomes in infantile epileptic spasms syndrome with non-lesional MRI.
SeizureEndocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome.
Brain & developmentA novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype.
SeizureAssociation Between Scalp High-Frequency Oscillations and Burden of Amplitudes and Epileptiform Discharges (BASED) Scores in Infantile Epileptic Spasms Syndrome.
BiomoleculesAssociation of serum insulin-like growth factor-1 and adrenocorticotropic hormone therapeutic response in patients with infantile epileptic spasms syndrome.
Frontiers in pharmacologyGenetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Epilepsia openNew insights into epileptic spasm generation and treatment from the TTX animal model.
Epilepsia openPredictive model for initial response to first-line treatment in children with infantile epileptic spasms syndrome.
Italian journal of pediatricsSurgical outcomes of drug-refractory infantile epileptic spasms syndrome and related prognostic factors: a retrospective study.
Acta epileptologicaSPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.
Acta epileptologicaInfantile Epileptic Spasms Syndrome Due to Neonatal Hypoglycemic Brain Injury: A Retrospective Audit.
Indian pediatricsCOVID-19 infection and vaccination in children with Dravet syndrome or infantile epileptic spasms syndrome: An internet survey in Japan.
Brain & developmentClinical Features and Predictors of Unfavorable Outcomes in Infantile Epileptic Spasms Syndrome: Results from a Multiancestry Cohort.
Journal of child neurologyCombination Therapy With Vigabatrin and Prednisolone Versus Vigabatrin Alone for Infantile Spasms.
Annals of clinical and translational neurologyAetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adACTH/corticosteroids in children: A scoping review.
Developmental medicine and child neurologyIdentification of topological alterations using microstate dynamics in patients with infantile epileptic spasms syndrome.
Scientific reportsRelationship between the time course of Burden of Amplitudes and Epileptiform Discharges scores and relapse in children with infantile epileptic spasms syndrome.
EpilepsiaModeling epilepsy by loss-of-function of the CUG-binding protein Elav-like family member 2 in zebrafish with multi-omics analysis.
Chinese medical journalFactors Influencing the Response of Patients with Infantile Epileptic Spasms Syndrome to ACTH as Repeated First-Line Therapy.
Neurology and therapyEvidence of thalamocortical network activation during epileptic spasms: A thalamic stereotactic EEG study.
EpilepsiaContribution of Cross-Phase-Amplitude Coupling to Relapse in Infantile Epileptic Spasms Syndrome.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceLong-short term memory autoencoder using delta with beta bands of EEG enables highly accurate prediction of seizure outcome in Infantile Epileptic Spasms Syndrome of unknown etiology.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceAetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.
Developmental medicine and child neurologyTreatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21.
Frontiers in pediatricsA Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyDisparities in the utilization of genetic testing for non-acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina.
Epilepsia openEvaluating the effectiveness of medical therapy in infantile epileptic spasms syndrome due to surgically-remediable lesions.
EpilepsiaInfantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.
SeizureThe genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Brain communicationsIntegrated analysis of proteomics and metabolomics in infantile epileptic spasms syndrome.
Scientific reportsAdrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation.
NeuropediatricsInfantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome.
Frontiers in pediatricsFavorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy.
Epilepsy & behavior reportsVentricular tachycardia induced by adrenocorticotropic hormone therapy in infantile epileptic spasms syndrome: A case report.
SeizureOutcomes following resective and disconnective strategies in the treatment of epileptic spasms: a systematic review of the literature and individual patient data meta-analysis.
Frontiers in neurologyShort-Term Effectiveness and Tolerability of Vigabatrin Therapy in Infantile Epileptic Spasms Syndrome.
Indian journal of pediatricsQuantitative analysis of 123I-iomazenil single-photon emission computed tomography findings from patients with infantile epileptic spasm syndrome.
Brain & developmentElementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome.
SeizureAbnormalities in brain magnetic resonance imaging associated with vigabatrin therapy in an infant with infantile epileptic spasms syndrome.
Clinical toxicology (Philadelphia, Pa.)A Multicenter Retrospective Observational Cohort Study of Seizure Freedom before Lennox-Gastaut Syndrome (the "Gap"). Opportunities for Prevention.
medRxiv : the preprint server for health sciencesKetogenic diet therapy for the treatment of pediatric epilepsy.
Epileptic disorders : international epilepsy journal with videotapeEvaluating the patient needs and tolerability of Clobazam liquid formulation (Likozam® 1 mg/mL): A French patient and care-givers' centered survey.
Epilepsy & behavior : E&BInfantile epileptic spasms syndrome: When spasms come out of the blue.
Epilepsy & behavior : E&BOptimal lead time for treatment of infantile epileptic spasms syndrome-a secondary data analysis.
Translational pediatricsDiagnostic yields of genetic testing and related benefits in infantile epileptic spasms syndrome: A systematic review and meta-analysis.
SeizureCorpus callosotomy for refractory epileptic spasms: Systematic review and meta-analysis.
SeizureSymptomatic vigabatrin-associated MRI toxicity is associated with simultaneous hormonal therapy among patients with infantile spasms.
Epilepsia openMean global field power is reduced in infantile epileptic spasms syndrome after response to vigabatrin.
Frontiers in neurologyIGF-1 impacts neocortical interneuron connectivity in epileptic spasm generation and resolution.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsFirst-choice hormonal therapies for children with infantile epileptic spasms syndrome in South Asia: A network meta-analysis of randomized controlled trials.
Epilepsia openTwo familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.
Epileptic disorders : international epilepsy journal with videotapeCharacteristics of overnight video-EEG monitoring in infantile epileptic spasms syndrome at 2-week follow-up.
EpilepsiaImpact of Bacille Calmette-Guérin vaccination on the therapeutic schedule of infantile epileptic spasms syndrome: A 25-year Japanese single-center survey.
Vaccine: XVitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report.
BMC pediatricsSerum matrix metallopeptidase-9 levels in infantile epileptic spasms syndrome of unknown etiology.
Epilepsy researchFactors influencing efficacy and relapse of adrenocorticotropic hormone in infantile epileptic spasms syndrome.
Epilepsy & behavior : E&BPredictive modeling based on functional connectivity of interictal scalp EEG for infantile epileptic spasms syndrome.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyCharacterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
NeuropediatricsEpilepsy surgery in developmental and epileptic encephalopathies.
Epilepsy & behavior : E&BAdrenocorticotropic hormone therapy alters Q-albumin ratios in patients with infantile epileptic spasms syndrome of unknown etiology.
Journal of the neurological sciencesMitigating treatment lag for infantile epileptic spasms syndrome in low- and middle-income countries: Key recommendations from the South Asia allied IESS Research Group.
EpilepsiaGenotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.
NeurogeneticsHave epilepsy outcomes changed for children with tuberous sclerosis complex in Queensland, Australia?
EpilepsiaClinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
EpilepsiaA retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
Epileptic disorders : international epilepsy journal with videotapeElectroclinical Features of Infantile Epileptic Spasms Syndrome.
Annals of Indian Academy of NeurologyThe Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era.
Pediatric neurologyInfantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.
Pediatric neurologyRisk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil.
Jornal de pediatriaIdentification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.
Expert review of neurotherapeuticsEarly Response, Long-Term Seizure Outcome, and Very-Low-Dose Adrenocorticotrophic Hormone Therapy for Infantile Epileptic Spasms Syndrome With Down Syndrome.
Pediatric neurologyPopulation-based study of rare epilepsy incidence in a US urban population.
EpilepsiaEpilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.
Epilepsia openTotal Corpus Callosotomy via Posterior Approach with Endoscopic-Alone Technique.
World neurosurgeryInfantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection.
Epilepsy & behavior reportsEpileptic spasms relapse is associated with response latency but not conventional attributes of post-treatment EEG.
Epilepsia openElectrographic screening for infantile epileptic spasms syndrome in a single sleep-wake cycle.
EpilepsiaNovel copy number variations and phenotypes of infantile epileptic spasms syndrome.
Clinical geneticsGenetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.
GenesDiagnosis and management of infantile epileptic spasms syndrome (IESS) in Gulf Cooperation Council (GCC) countries: Expert consensus statement.
SeizureReal-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyEfficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Spasms Syndrome (IESS): A systematic review and meta-analysis.
EpilepsiaSevere Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency.
Journal of pediatric hematology/oncologyA Potential Mechanism of Neurological Impairment in Children With Infantile Spasm: Based on Microanatomic Structure Analysis Employing Voxel-Based Morphometry and Surface-Based Morphometry.
Pediatric neurologyTiming the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience.
EpilepsiaElectroclinical Landscape of Infantile Epileptic Spasms Syndrome.
Indian journal of pediatricsGenotype and phenotype correlation of PHACTR1-related neurological disorders.
Journal of medical geneticsPurified cannabidiol as add-on therapy in children with treatment-resistant infantile epileptic spasms syndrome.
SeizureInitial combination versus early sequential standard therapies for Infantile Epileptic Spasms Syndrome-Feedback from stakeholders.
Epilepsia openSocietal costs of illness for infantile epileptic spasms syndrome and evolutionary cost prediction in the era of WHO's IGAP.
Epilepsy researchSuper-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
Indian journal of pediatricsDoes the absence or presence of sleep spindles on EEG have prognostic value for cognitive outcome in children with infantile epileptic spasms syndrome? A systematic literature review.
Epileptic disorders : international epilepsy journal with videotapeAdrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome: a real-world study.
World journal of pediatrics : WJPInfantile epileptic spasms syndrome: a cohort study of 88 children.
Italian journal of pediatricsMechanisms of infantile epileptic spasms syndrome: What have we learned from animal models?
EpilepsiaDelays to care in infantile epileptic spasms syndrome: Racial and ethnic inequities.
EpilepsiaClinical and electroencephalographic characteristics of 34 infant with onset of epileptic spasms before three months of age.
Epilepsy & behavior : E&BCrucial involvement of fast waves and Delta band in the brain network attributes of infantile epileptic spasms syndrome.
Frontiers in pediatricsCase report: De novo variant of SETD1A causes infantile epileptic spasms syndrome.
Frontiers in neurologyThe Response of Synthetic Adrenocorticotropic Hormone (ACTH) Treatment in Pediatric Drug-Resistant Epilepsy Other Than Infantile Epileptic Spasms Syndrome: A Retrospective Observational Study.
CureusSafety and efficacy of melatonin supplementation as an add-on treatment for infantile epileptic spasms syndrome: A randomized, placebo-controlled, double-blind trial.
Journal of pineal researchFifteen years of real-world data on the use of vigabatrin in individuals with infantile epileptic spasms syndrome.
EpilepsiaBrazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants.
Arquivos de neuro-psiquiatriaClinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review.
SeizureLong-term survival and factors associated with mortality among children with infantile epileptic spasms syndrome - A retrospective cohort study.
SeizureA case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation.
SeizureAicardi Syndrome Is a Genetically Heterogeneous Disorder.
GenesLandscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Epilepsia openPrediction model for long-term seizure and developmental outcomes among children with infantile epileptic spasms syndrome.
Frontiers in neurologyIdentifying risk factors for adverse events of pyridoxal phosphate in infantile epileptic spasms syndrome.
Epilepsy & behavior : E&BCare of Children with Infantile Epileptic Spasms Syndrome and Applicability of Telemedicine Amidst the COVID-19 Pandemic.
Indian journal of pediatricsA case-control evaluation of Spasm control and Tolerability of the Modified Atkins diet versus classic ketogenic diet in Chinese Children with infantile epileptic spasms syndrome.
SeizureThe landscape of infantile epileptic spasms syndrome in South Asia: peculiarities, challenges, and way forward.
The Lancet regional health. Southeast AsiaWhat Should be the Next Choice After Failure of Hormonal and Vigabatrin Therapy in Infantile Epileptic Spasms Syndrome?
Indian journal of pediatricsNutritional vitamin B12 deficiency-associated Infantile epileptic spasms syndrome: Clinico-neurophysiological presentation, response to treatment, and neurodevelopmental outcome.
SeizureLong-term analysis of adrenocorticotropic hormone monotherapy for infantile epileptic spasms syndrome with periventricular leukomalacia.
SeizureThe epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyThe epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
Epilepsia openMutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Infantile epileptic spasms syndrome e no aconselhamento genético da família.
Doenças relacionadas
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Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma síndrome epiléptica rara que costuma se manifestar em bebês de 2 a 12 meses, podendo se estender raramente até os 24 meses. É historicamente relacionada à síndrome de West quando combinada com hipsarritmia e regressão do neurodesenvolvimento.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
7 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (2026). Infantile epileptic spasms syndrome. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/infantile-epileptic-spasms-syndrome
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Infantile epileptic spasms syndrome
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Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Moléculas estudadas na doença
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
