SLC35A3-CDG é uma forma de distúrbios congênitos de glicosilação ligada a N caracterizada por artrogripose distal (contraturas leves em flexão dos dedos, desvio das falanges distais, deformidade em pescoço de cisne), retromicrognatia, hipotonia muscular geral, atraso no desenvolvimento psicomotor, transtorno do espectro do autismo (atraso na fala, uso anormal da fala, dificuldades em iniciar, compreender e manter a interação social, comunicação não verbal limitada e comportamento repetitivo), convulsões, microcefalia e deficiência intelectual leve a moderada que se torna aparente com a idade. A doença é causada por mutações no gene SLC35A3 (1p21).
Introdução
O que você precisa saber de cara
SLC35A3-CDG é uma forma de distúrbios congênitos de glicosilação ligada a N caracterizada por artrogripose distal (contraturas leves em flexão dos dedos, desvio das falanges distais, deformidade em pescoço de cisne), retromicrognatia, hipotonia muscular geral, atraso no desenvolvimento psicomotor, transtorno do espectro do autismo (atraso na fala, uso anormal da fala, dificuldades em iniciar, compreender e manter a interação social, comunicação não verbal limitada e comportamento repetitivo), convulsões, microcefalia e deficiência intelectual leve a moderada que se torna aparente com a idade. A doença é causada por mutações no gene SLC35A3 (1p21).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Transports diphosphate-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the lumen of the Golgi apparatus, functioning as an antiporter that exchanges UDP-N-acetyl-alpha-D-glucosamine for UMP (PubMed:10393322). May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate highly branched, multiantennary complex N-glycans and keratan sulfate (PubMed:23766508, PubMed:34981577). However, the exact role of SLC35A3 still needs to be elucidated, it could be a member of
Golgi apparatus membrane
Arthrogryposis, impaired intellectual development, and seizures
A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia.
Variantes genéticas (ClinVar)
60 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 293 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 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 — Síndrome de espectro clínico de autismo-epilepsia-artrogripose
Centros de Referência SUS
13 centros habilitados pelo SUS para Síndrome de espectro clínico de autismo-epilepsia-artrogripose
Centros para Síndrome de espectro clínico de autismo-epilepsia-artrogripose
Detalhes dos centros
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
The quality of life (QoL) of parents and caregivers of children with disabilities in Saudi Arabia is examined in this systematic review. Fourteen cross-sectional studies published between 2020 and 2024 are included, encompassing 1,841 caregivers, of whom 60.2% are mothers, 23.1% fathers, and 18.4% other caregivers, caring for 1,460 children with disabilities. QoL is primarily assessed using the WHOQOL-BREF in 10 studies, followed by the SF-36 in two studies and the Beach Center Family Quality of Life Scale in one study. Autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), cerebral palsy (CP), and Down syndrome (DS) are the most commonly reported conditions. Negative QoL outcomes are reported in at least one domain in 9 of the 10 WHOQOL-BREF studies. The physical domain is most frequently affected (50% of studies), followed by the social and environmental domains (40% each) and the psychological domain (30%). More than half of caregivers (53.6%) are reported to be unemployed, and poorer QoL is consistently associated with unemployment, lower income, limited education, and restricted access to support services. Lower QoL is most frequently reported by mothers and by caregivers of children with severe or multiple disabilities, highlighting the need for targeted support interventions.
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
Biallelic loss-of-function variants in FBXO31 cause autosomal-recessive intellectual disability. A recurrent de novo variant, c.1000G>A(p.Asp334Asn), has been described in association with an autosomal-dominant phenotype. To refine this phenotype and its clinical implications, we re-evaluated three published cases and ascertained four additional probands via advocacy networks, GeneMatcher, and clinician referral. Phenotyping included neurologic, behavioral, and dysmorphology assessment. All seven individuals carried the recurrent de novo FBXO31 p.Asp334Asn variant. A core neurodevelopmental profile was observed and included cerebral palsy (mixed hypotonia, spasticity, and dystonia), global developmental delay/intellectual disability, and speech impairment. Neuropsychiatric features were sometimes prominent and included attention-deficit/hyperactivity disorder, anxiety, stereotypies, autistic features, and behavioral dysregulation. Neuroimaging often showed a hypoplastic corpus callosum and posterior-predominant white-matter changes. In one individual, gray matter heterotopias were also observed. A subtle but consistent facial gestalt was noted. Recurrent FBXO31 p.Asp334Asn variants lead to a recognizable neurodevelopmental syndrome. Based on our findings, we recommend including FBXO31 in diagnostic algorithms for cerebral palsy and neurodevelopmental disorders. We propose the descriptive term "autosomal dominant FBXO31-associated neurodevelopmental disorder," and-consistent with the validating laboratory and with support from the FBXO31 Foundation-propose the eponym "Kruer syndrome."
The efficacy and safety of cannabinoids for the treatment of mental disorders and substance use disorders: a systematic review and meta-analysis.
Mental disorders and substance use disorders (SUDs) are among the leading reasons for which the medical use of cannabinoids has been approved, but their efficacy and safety in treating these conditions is yet to be established. We conducted a systematic review and meta-analysis of randomised controlled trials (RCTs) testing the efficacy and safety of cannabinoids as the primary treatment for mental disorders or SUDs. We searched Ovid MEDLINE, PsychINFO, Cochrane Central Register of Controlled Clinical Trials, Cochrane Database of Systematic Reviews, and Embase for peer-reviewed articles published between Jan 1, 1980, and May 13, 2025, evaluating the efficacy of cannabinoids in reducing or treating mental disorders and SUDs as the primary indication. Primary outcomes were remission of disorder or reduction in disorder symptoms. Safety was assessed via synthesis of all-cause and serious adverse events, which was used to calculate the number needed to treat to harm (NNTH). Two independent reviewers screened all studies and performed data extraction. Evidence was synthesised as odds ratios (ORs) for dichotomous measures and standardised mean differences (SMDs) for continuous measures, via random-effects meta-analysis in Review Manager, version 5.4. Risk of bias was assessed using the Cochrane Collaboration Risk of Bias 2.0 tool. We evaluated the quality of the primary outcomes using the GRADE framework. The study was registered with PROSPERO (CRD42023392718). 54 trials were identified for inclusion (2477 participants; 1713 [69%] males, 764 [31%] females; median age 33·3 years [IQR 28·1-38·05; ethnicity data not available). 24 (44%) of these trials had a high risk of bias, and the certainty of evidence for most outcomes was low. Our meta-analysis revealed that a combination of cannabidiol and delta-9-tetrahydrocannabinol reduced cannabis withdrawal symptoms (SMD -0·29, 95% CI -0·57 to -0·02) and weekly grams of cannabis use (-1·00, -1·69 to -0·30) among those with cannabis use disorder, and a reduction in tic severity among those with tic or Tourette's Syndrome (-0·68, -1·03 to -0·34) compared with placebo. Any cannabinoid type led to an increase in sleep time as recorded by an electronic device (0·54, 0·14 to 0·95) and sleep diary (0·55, 0·01 to 1·09) among those with insomnia. There was a reduction in autistic traits (-0·36, -0·66 to -0·07) among those with autism spectrum disorder. Cannabinoids led to an increase in cocaine craving among those with cocaine use disorder (0·69, 0·22 to 1·15) compared with placebo. There were no significant effects on outcomes associated with anxiety, anorexia nervosa, psychotic disorders, post-traumatic stress disorder, and opioid use disorder. There were insufficient data to meta-analyse studies of ADHD, bipolar disorder, obsessive-compulsive disorder, and tobacco use disorder. There was an absence of RCT evidence for the treatment of depression. Meta-analysis revealed higher odds of all-cause adverse events (OR 1·75, 95% CI 1·25 to 2·46) among those using cannabis versus control group (NNTH=7) but no higher odds of serious adverse events or study withdrawal. There was some evidence that cannabinoids can reduce symptoms of cannabis use disorder, insomnia, tic or Tourette's syndrome, and autism spectrum disorder, but the quality of this evidence was generally low. Cannabinoids were associated with a greater risk of any adverse events but not of serious adverse events. Overall, there is a crucial need for more high-quality research. Given the scarcity of evidence, the routine use of cannabinoids for the treatment of mental disorders and SUDs is currently rarely justified. The National Health and Medical Research Council.
Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.
PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant syndrome caused by a mutation in the PTEN gene. Previous studies have suggested an association between PHTS and epilepsy, but the clinical characteristics of epilepsy in PHTS remain unknown. This study aims to expand knowledge of epilepsy in PHTS and provide insights into its clinical features. A retrospective observational study was conducted at the Radboud University Medical Center, including 149 patients with clinically or genetically confirmed PHTS. Electronic patient records were reviewed for baseline characteristics, epileptic features, therapeutic interventions, and neuroimaging results. A cumulative risk analysis for developing epilepsy was performed. The prevalence of epilepsy among PHTS patients in this cohort was found to be 6%, with an estimated PHTS prevalence of 1:20 000 in the Netherlands. Autism spectrum disorder (ASD) was significantly associated with an increased risk of developing epilepsy (p = 0.002). A range of seizure semiologies was observed, with focal epilepsy being the most common, presenting as focal seizures with impaired awareness. EEG results predominantly showed (multi)focal discharges with variable localization. MRI abnormalities did not correlate with epileptic foci on EEG. This study highlights the clinical characteristics of epilepsy in pediatric patients with PHTS. Follow-up should include monitoring for characteristics of focal epilepsy, with EEG utilized selectively when such episodes are observed, rather than as a routine screening measure. Treatment strategies should be individualized based on the patient's characteristics. In cases of epilepsy, MRI is recommended to identify potential structural malformations amenable to surgical intervention.
Repeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2-/- Mice.
Autism spectrum disorder (ASD) is characterized by social impairments and stereotyped behavior, with some individuals exhibiting heightened aggression in response to stress. This stress induced aggression (SIA) can severely impact quality of life, yet its underlying neural mechanisms remain poorly understood. Here, we investigated the behavioral phenotypes and neural activity that result as a consequence of stress in Cntnap2-/-:TRAP2+/-:Ai14+/- mice. Deletion of the CNTNAP2 gene leads to a highly penetrant syndromic form of ASD, and the targeted recombination in active populations (TRAP) system allows for permanent access to neuronal populations activated during a specific experience, such as stress and aggression. We implemented a behavioral paradigm consisting of a baseline resident intruder assay, with either a single day or four consecutive days of restraint stress, followed by a posttest resident intruder assay in Cntnap2-/-:TRAP2+/-:Ai14+/- and control mice. While a single day of restraint stress failed to induce changes in aggressive behavior in either genotype, 4 days of restraint stress significantly escalated aggression and reduced latency to attack selectively in Cntnap2-/- mice. Using TRAP-based labeling, we observed increased neuronal activity in the lateral septum, lateral habenula, lateral hypothalamus, nucleus accumbens, and prelimbic cortex of Cntnap2-/- mice. Interestingly, time aggressive and aggressive events were positively correlated with activity in the lateral septum, lateral habenula, and infralimbic cortex. These findings suggest that repeated stress engages specific fronto-striatal and limbic regions in Cntnap2-/- mice and provide insight into the neural substrates of maladaptive SIA, offering a foundation for targeted therapeutic strategies.
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Journal of the Korean Academy of Child and Adolescent PsychiatryAcute Pisa syndrome in a 4-year-old child with autism spectrum disorder: The youngest reported case of risperidone-induced extrapyramidal reaction.
Asian journal of psychiatryClinical correlates of individuals with and without misophonia in the U.S.: Results from a population-based study.
Psychiatry researchThe First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1-Associated Vulto-van Silfout-de Vries Syndrome (VSVS).
American journal of medical genetics. Part AWhat Does the PANSS Autism Severity Score (PAUSS) Really Measure in Patients With First Episode Psychosis? Critical Considerations.
Journal of autism and developmental disordersAltered Structural Plasticity Mediated by mGlu and NMDA Receptors and Impaired Cognition in a Genetic ASD Model (Shank3+/- Mice).
The Journal of neuroscience : the official journal of the Society for NeuroscienceTHE EFFICACY OF SENSORY-ADAPTED DENTAL INTERVENTIONS FOR CHILDREN WITH DEVELOPMENTAL DISABILITIES AND SENSORY SENSITIVITIES.
Georgian medical newsAlterations in electroencephalography signals in female fragile X syndrome mouse model on a C57BL/6J background.
Physiology & behaviorPregabalin in Pregnancy: Major Congenital Malformations, Other Birth Outcomes, and Neurodevelopmental Outcomes.
The Journal of clinical psychiatryPACS1 syndrome variant alters proteomic landscape of developing cortical organoids.
bioRxiv : the preprint server for biologyDevelopmental neurotoxicity evaluation of di(2-ethylhexyl) phthalate (DEHP) and three alternative plasticizers in human neurospheres.
Environment internationalUse of a humanoid robot to reduce distress in autistic children undergoing paediatric cardiology visits: a pilot study.
BMJ paediatrics openCase Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.
Frontiers in endocrinologyCausal relationship between tractography-based brain white matter structural connectome and risk of psychiatric disorders: A bidirectional Mendelian randomization study.
Psychiatry research. NeuroimagingMedical Gases as Emerging Regulators of Paediatric Endocrine and Neurodevelopmental Pathways: A Mini-Review.
Acta paediatrica (Oslo, Norway : 1992)Therapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in fragile X messenger ribonucleoprotein 1 knockout mice.
Brain research bulletinFMRP restoration in parvalbumin interneurons: A circuit-specific improvement of visual learning in fragile X syndrome.
iScienceDysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models.
Journal of neurodevelopmental disordersNeurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant.
GenesDistinct protein profiles in cord blood plasma of children with autism spectrum disorder.
Scientific reportsRetinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype.
Clinical geneticsWeeFIM and CRIDI-TEA results in children with Down syndrome and autism spectrum disorder at the CRIT Guanajuato.
Boletin medico del Hospital Infantil de MexicoTwo cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.
Human genomicsExpanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.
Neurology. GeneticsThe role of interleukin-37 and interleukin-38 in the development and remission of autism spectrum disorder: a comprehensive review of neuroinflammatory mechanisms and potential therapeutic implications.
Frontiers in immunologyClinical and neuropsychological characterization of Jacobsen syndrome (del11q).
Journal of neurodevelopmental disordersDouble Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.
Molecular syndromologyNovel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceDifference in Language Profiles of Children With Autism Spectrum Disorder and Down Syndrome Is Not Driven by Non-Verbal Cognition.
International journal of language & communication disordersA Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.
Molecular genetics & genomic medicineMeCP2 regulates telencephalic development in human cerebral organoids.
Cell reportsUncovering novel endocannabinoidome-gut microbiome-brain axis-based therapeutic targets in a Fragile X Syndrome mouse model.
Progress in neuro-psychopharmacology & biological psychiatryFunctional evaluation of NAA10 variants in patients with Ogden syndrome.
Psychiatric geneticsTatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.
CureusComorbidity of Attention Deficit Hyperactivity Disorder (ADHD) and Chung-Jansen Syndrome: Case Report and Review of Literature.
Clinical case reportsConcomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.
Molecular syndromologyMapping the genetic landscape across 14 psychiatric disorders.
NatureLennox-Gastaut syndrome: Comorbidities and clinical implications.
Seminars in pediatric neurologyJordan syndrome due to PPP2R5D gene mutation: a report of two pediatric cases and literature review.
Translational pediatricsShank3B-/- pathophysiology: Early metformin treatment rescues behavioural deficits and normalises exacerbated mRNA translation.
Neurobiology of diseaseThe Cerebellar Neuropsychiatric Rating Scale Version 2: Development and Validation.
Cerebellum (London, England)Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk.
PCN reports : psychiatry and clinical neurosciencesOverlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness.
CureusRandomised Controlled Trial Evidence on Medicinal Cannabis for Treatment of Mental Health and Substance Use Disorders: A Scoping Review.
Clinical drug investigationA case of Klinefelter syndrome presenting with an acute psychotic episode after COVID-19 infection.
PCN reports : psychiatry and clinical neurosciencesVocabulary and Syntactic Development in Japanese Children With Autism Spectrum Disorder and Down Syndrome Accompanied by Intellectual Disability.
Journal of intellectual disability research : JIDRHow Variability Is Addressed in Interventions for Neurodiverse Conditions: Implications for Stuttering.
Journal of speech, language, and hearing research : JSLHRDelayed onset of striatal projection neuron hyperexcitability in Fmr1-/y mice.
Frontiers in cellular neuroscienceThe Role of Mitochondrial DNA Copy Number in Neurodevelopmental Disorders: A Bidirectional Two-Sample Mendelian Randomization Study.
Psychology research and behavior managementRevisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.
Balkan medical journalDelayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics.
Journal of UOEHImpaired cortical development and translational control in a missense mouse model of DDX3X syndrome.
Disease models & mechanismsUBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome.
Molecular autismPrevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis.
European journal of pediatricsBeyond Vision: Unveiling the Psychiatric Dimensions of Keratoconus.
Medicina (Kaunas, Lithuania)Kmt2c/Mll3 Haploinsufficiency Causes Autism-like Behavioral Deficits in Mice.
BiomoleculesDeep Brain Stimulation in Treatment-Resistant Psychiatric Disorders: Efficacy, Safety, and Future Directions.
Brain sciencesDeciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.
BMC medical genomicsDisrupted theta synchronization and synaptic connectivity in the visual cortex of Fmr1 KO mice.
Nature communicationsThe role of autoantibodies in the neuropsychiatric manifestations of 22q11 deletion syndrome.
Acta neuropsychiatricaA novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report.
Journal of medical case reportsLong-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.
BMC medical genomicsUnveiling the multitarget mechanism of Liuwei Dihuang decoction in autism spectrum disorder via network pharmacology and molecular docking.
Scientific reportsDeciphering the molecular connections between polycystic ovarian syndrome and autism spectrum disorder using bioinformatic analysis.
Hormones and behaviorThe 4E-BPs as Translational Regulators in Neurological Disorders: Molecular Mechanisms and Therapeutic Potential.
Molecular neurobiology[Evolution of DEE-SWAS into photosensitive epilepsy in a patient with an ASH1L gene mutation].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaCase Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features.
Frontiers in geneticsSpatiotemporal Brain Transcriptomics Reveal Risk Gene Hot-Spots in Major Neuropsychiatric Disorders.
Research squareAberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit.
bioRxiv : the preprint server for biologyDistinct patterns of de novo coding variants contribute to Tourette Syndrome etiology.
bioRxiv : the preprint server for biologyDevelopmental CA2 perineuronal net reduction restores social memory in Shank3 mutant mice.
bioRxiv : the preprint server for biologyMaternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.
Brain and behaviorShared and divergent alteration of whole-brain connectivity and sensory deficits in multiple autism mouse models.
Molecular psychiatryTryptophan Metabolism in Neurodevelopment and Its Implications For Neurodevelopmental Disorders.
Molecular neurobiologyShank3 establishes AMPA receptor subunit composition at cerebellar mossy fiber-granule cell synapses and is associated with altered regional microglial morphology.
Neurobiology of diseaseBi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
American journal of human geneticsBehavioral and molecular insights into anxiety in ube3a and fmr1 zebrafish models of autism spectrum disorders.
Translational psychiatryTransdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study.
Molecular autismGenetic crosstalk of autism spectrum disorders and epilepsy: an insight into the presynapse.
Frontiers in neurologyMonogenic defects in Russian children with autism spectrum disorders.
World journal of clinical pediatricsAtypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.
World journal of clinical pediatrics[Alexithymia - traditional and advanced studies].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaTranscription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.
Translational psychiatryFuture Directions for Studying the Potential of Mammalian Dscam in Autism Spectrum Disorder and Alzheimer's Disease: Insights from Dose Sensitivity.
Molecular neurobiologyRethinking Catatonia in Neurodevelopmental Conditions: Toward a Refined Typology and Research Framework.
Psychiatry and clinical psychopharmacologyRNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.
Frontiers in molecular biosciencesOptimizing Inpatient Care for Children with Neurodevelopmental Disabilities.
The Journal of pediatricsHarnessing the microbiota-gut-brain axis to prevent and treat pediatric neurodevelopmental disorders: translational insights and strategies.
Journal of translational medicineAge-varying distinct neuroanatomy in young children with autism spectrum disorder and fragile X syndrome.
Molecular psychiatry[Genetic and clinical characteristics in epilepsy patients with ATP6V1A gene variants].
Zhonghua er ke za zhi = Chinese journal of pediatricsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
- Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
- The efficacy and safety of cannabinoids for the treatment of mental disorders and substance use disorders: a systematic review and meta-analysis.
- Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41825102mais citado
- Repeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2-/- Mice.
- Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
- Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
- A human case of SLC35A3-related skeletal dysplasia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:370943(Orphanet)
- OMIM OMIM:615553(OMIM)
- MONDO:0014248(MONDO)
- Epilepsia(PCDT · Ministério da Saúde)
- GARD:17604(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55784749(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
