A Síndrome de Lennox-Gastaut (SLG) pertence ao grupo das encefalopatias epilépticas graves da infância.
Introdução
O que você precisa saber de cara
A Síndrome de Lennox-Gastaut (SLG) pertence ao grupo das encefalopatias epilépticas graves da infância.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 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
7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Multigenic/multifactorial, Not applicable.
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA
Cell membrane
Spinocerebellar ataxia 6
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.
ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity)
Nucleus
Developmental and epileptic encephalopathy 94
A form of epileptic encephalopathy, a heterogeneous group of 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. DEE94 is an autosomal dominant, severe form characterized by onset of multiple seizure types in the first few years of life.
Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.
Cell membrane
Generalized epilepsy with febrile seizures plus 2
A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:18514161, PubMed:22243422, PubMed:22303015, PubMed:24909990, PubMed:26950270, PubMed:30602789). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMe
Postsynaptic cell membraneCell membraneCytoplasmic vesicle membrane
Epilepsy, childhood absence 5
A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission and participates in many forms of endocytosis, such as clathrin-mediated endocytosis or synaptic vesicle endocytosis as well as rapid endocytosis (RE) (PubMed:15703209, PubMed:20428113, PubMed:29668686, PubMed:8101525, PubMed:8910402, PubMed:9362482). Associates to the membrane, through lipid binding, and self-assembles into rings and stacks of interconnected rings through oligomerization to form a helical polym
Cell membraneMembrane, clathrin-coated pitCytoplasmic vesiclePresynapseCytoplasmic vesicle, secretory vesicle, chromaffin granule
Developmental and epileptic encephalopathy 31A
An autosomal dominant 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.
Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in cortical layers II-III. Binds to DNA in a sequence-specific manner
Nucleus
Developmental and epileptic encephalopathy 67
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. DEE67 is an autosomal dominant form characterized by onset of seizures in infancy. Later onset of seizures in childhood may occur in some patients.
Serine/threonine-protein kinase involved in various processes such as neuronal proliferation, differentiation, migration and programmed cell death. Extracellular stimuli such as pro-inflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK10/JNK3. In turn, MAPK10/JNK3 phosphorylates a number of transcription f
CytoplasmMembraneNucleusMitochondrion
Medicamentos e terapias
Mecanismo: Sodium channel alpha subunit blocker
Mecanismo: Cannabinoid CB1 receptor negative allosteric modulator
Mecanismo: Sodium channel alpha subunit blocker
Variantes genéticas (ClinVar)
5,154 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 12 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
18 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 Lennox-Gastaut
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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
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Outros ensaios clínicos
67 ensaios clínicos encontrados, 12 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 910
Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.
Developmental and epileptic encephalopathies (DEEs) are a group of severe childhood-onset neurological disorders, often caused by rare genetic variants affecting brain development and excitability. Despite advances in genomic sequencing, a substantial proportion of DEE cases remain unsolved. Here, we identify THAP12 as a novel disease-causing gene associated with autosomal recessive DEE. Whole-genome sequencing in two siblings who presented with infantile spasms and progressed to Lennox-Gastaut syndrome revealed compound heterozygous variants in THAP12 , leading to a reduction in protein abundance, consistent with a loss-of-function mechanism. To confirm this mechanism in vivo , we generated mouse models carrying either of the two patient-specific alleles. Both homozygous and compound heterozygous animals exhibited embryonic lethality, confirming the essential and dosage-sensitive role of Thap12 during early development. Zebrafish loss-of-function models recapitulated major aspects of the human phenotype, including microcephaly, brain hypoplasia, abnormal neuronal activity, and increased seizure sensitivity. Transcriptomic profiling of larval zebrafish brains revealed dysregulation of cell cycle and apoptotic pathways, in line with increased cell death and reduced proliferation observed in mutant embryos. Notably, overexpression of wild-type human THAP12 mRNA rescued these in vivo phenotypes, while the patient-derived variants allele failed to do so. Altogether, our findings demonstrate that THAP12 is essential for early brain development and neuronal survival, and that biallelic loss-of-function variants in this gene underlie a previously unrecognized etiology of autosomal recessive DEE. These results provide a mechanistic framework linking, for the first time, THAP12 dysfunction to neurodevelopmental pathology and open new avenues for diagnosis in undiagnosed DEE cases.
Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies.
Lennox-Gastaut syndrome (LGS) is a rare and severe developmental and epileptic encephalopathy characterized by multiple drug-resistant seizure types, mandatory tonic seizures, cognitive and behavioral impairment, and distinctive electroencephalographic features, including slow spike-wave discharges and generalized paroxysmal fast activity. Despite decades of therapeutic advances, LGS remains associated with profound lifelong disability and the absence of a single disease-defining molecular mechanism. Recent advances in genetics, neurophysiology, and network neuroscience have reframed LGS as a convergent network encephalopathy, in which diverse genetic, structural, metabolic, immune, and acquired insults funnel into shared molecular hubs, leading to thalamocortical network dysfunction. This framework helps explain the limited efficacy of purely syndrome-based treatments. This review synthesizes current evidence on electroclinical phenotyping, molecular and network pathogenesis, and contemporary diagnostic workflows and proposes a molecule-to-precision-therapy framework for LGS. We critically appraise pharmacologic, dietary, surgical, and neuromodulatory therapies, emphasizing drop seizures as a major driver of morbidity. Among available treatments, cannabidiol shows the most consistent and clinically meaningful efficacy for drop seizures, with benefits extending beyond seizure counts to seizure-free days and caregiver-relevant outcomes. Finally, we highlight key gaps and future directions, including etiology-stratified trials, network-guided interventions, and outcome measures that capture long-term developmental and quality-of-life impacts.
Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.
The cyclin-dependent kinase-like 5 deficiency disorder (CDD) is an ultrarare X-linked disorder causing early-onset epileptic encephalopathy and severe developmental deficits. Few studies exist on its electroclinical features, outcomes, sex differences, and neuroimaging, particularly from India. This study aims to describe the electroclinical syndrome, developmental profile, radiological findings, and outcomes in patients with CDD and to compare these factors between males and females. This is a hospital-based observational study of patients diagnosed with CDD identified from a prospectively maintained registry of children with developmental and epileptic encephalopathy. Data on demographics, seizure types, epilepsy syndromes, antiseizure medications, electroencephalography findings, developmental assessments, genetic characteristics, brain magnetic resonance imaging, and outcomes were collected. We included 12 patients with pathogenic (9) and likely pathogenic (3) variants in cyclin-dependent kinase-like 5 (CDKL5), among whom seven were female. The mean age at onset of seizures was 5.95 ± 5.56 months and was higher for males than females (8.6 ± 7.23 vs 3.19 ± 2.47). The most common seizure types at onset were tonic seizures in 6 (50%) children and epileptic spasms in 4 (33.3%). Lennox-Gastaut syndrome and West syndrome were the most frequent epilepsy syndromes. The median number of seizures per person was 2.9, and the median number of antiseizure medications used was 6 during their lifetime. Magnetic resonance imaging revealed cerebral volume loss in 7 children and white matter lesions in 6. Severe developmental deficits, a Rett-like phenotype, and cortical visual impairment were observed in three-fourths of the children, and regression of milestones occurred in two-thirds. Repetitive motor behavior (P 0.0455) and regression (P 0.0101) were more common in females. CDD causes refractory epilepsy and severe developmental deficits irrespective of the sex of the patient, variant type, and treatment.
Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by pathogenic variants in TSC1 or TSC2, affecting approximately 1 in 6,000 live births. Diagnosis can be established genetically or clinically based on characteristic neurocutaneous, renal, and cardiac findings. Epilepsy occurs in up to 90% of individuals, with a wide spectrum of seizure types, including epileptic spasms and focal seizures, often evolving into Lennox–Gastaut syndrome. We describe two pediatric cases with genetically confirmed TSC who presented with prolonged, stereotyped episodes of retching and vomiting as the initial clinical manifestation. Brain MRI and long-term video-EEG monitoring were performed to investigate the neurological origin of these symptoms. In one patient, video-EEG recordings demonstrated an ictal pattern temporally correlated with the vomiting episodes, confirming their epileptic nature. In the other, although no episodes were captured during monitoring, the interictal EEG revealed both synchronous and asynchronous epileptiform discharges in the bilateral frontal regions, supporting a possible epileptic basis. To our knowledge, these represent the first reported cases of ictal vomiting as the initial seizure manifestation in TSC. These cases emphasize the need to consider recurrent, stereotyped gastrointestinal symptoms as potential ictal phenomena, particularly in individuals with TSC who are at high risk for epilepsy. Early and prolonged electroencephalographic monitoring may be crucial for timely recognition and appropriate management.
Safety and efficacy of vigabatrin add on compared to placebo in Lennox-Gastaut syndrome (LennoVig): A single center randomized double-blind placebo-controlled trial.
Lennox-Gastaut syndrome (LGS) is a developmental epileptic encephalopathy and is often refractory to antiseizure medication. We report the safety and efficacy of adjunctive vigabatrin compared to placebo in the patients with LGS in a randomized double-blind placebo-controlled trial. Children aged 2 to 18 years with LGS were screened for eligibility and were observed for 4 weeks of baseline recording of different types of seizure and the Clinical Global Impression (CGI) scale. Patients were randomized to vigabatrin or placebo using simple 1:1 randomization. Outcome was defined at 12 weeks. The primary outcome was ≥50 % reduction in drop attacks, and secondary outcomes were 1) percentage change in drop attacks, 2) ≥50 % reductions in different seizure types, 3) number of seizure free days, 4) improvement in the CGI and 5) adverse events. Fifty patients each received vigabatrin and placebo. At 12 weeks, 8 patients were lost to follow-up (3 vigabatrin, 5 placebo). More patients in the vigabatrin group achieved the primary outcome than placebo (51.7 % vs 8.9 %; P < 0.001). Vigabatrin reduced all seizure types except generalized tonic-clonic seizures, reduced total number of seizures (-50 % vs 0 %; P < 0.001), and increased seizure-free days (4.6 vs 0.53; P = 0.02). The CGI scores improved significantly (P < 0.001). Adverse effects were similar, though sedation was more common with vigabatrin (P = 0.007). In LGS, vigabatrin is effective in reducing drop attacks, and focal, myoclonic and atypical absence seizures along with improvement in the CGI. Clinical Trial Registry of India, Indian Council of Medical Research (CTRI/2022/12/048517).
Publicações recentes
Real-world effectiveness and tolerability of highly purified cannabidiol in patients with monogenic developmental and epileptic encephalopathies with highly active epilepsy.
Soticlestat for drug-resistant epilepsy: Current evidence and clinical perspectives.
Practical Recommendations for Cardiology Follow-Up in Patients Treated with Fenfluramine Based on Expert Opinion and Clinical Experience.
Preclinical models of Lennox-Gastaut syndrome: Progress and priorities.
EEG findings in Lennox-Gastaut syndrome: Pursuing a moving target.
📚 EuropePMC712 artigos no totalmostrando 196
Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.
medRxiv : the preprint server for health sciencesEffectiveness and safety of perampanel in patients with lennox-gastaut syndrome: a single-arm meta-analysis with meta-regression and sensitivity analyses.
Epilepsy & behavior : E&BBiallelic RNU2-2-related neurodevelopmental disorder presenting as Lennox-Gastaut syndrome.
Acta neurologica BelgicaCannabidiol inhibits phenytoin clearance and can result in clinical changes: Two cases.
SeizureCannabidiol in Neurology: Current Insights and Translational Perspectives.
Pharmaceuticals (Basel, Switzerland)Stiripentol: Unpublished results from the first phase 2 clinical trial in Lennox-Gastaut syndrome conducted in the early 1990s.
EpilepsiaGenetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy.
Epilepsy currentsFlexibility in the Modelling of Comparative Effectiveness in the Absence of Head-to-Head Comparisons in the NICE Single Technology Appraisal of Fenfluramine for Treating Seizures Associated with Lennox-Gastaut Syndrome: An External Assessment Group Perspective.
PharmacoEconomicsUnraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies.
International journal of molecular sciencesStructure-Activity Relationship Study on Soticlestat Derivatives for the Discovery of CYP46A1 (CH24H) Inhibitors.
Molecules (Basel, Switzerland)Short-term vigabatrin is safe and effective in Lennox-Gastaut syndrome.
Journal of the neurological sciencesDevelopmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.
Pediatric neurologyCannabidiol against Epilepsy: Insights and an Experimental In Silico Approach.
Current pharmaceutical designEpilepsy, neuroinflammation and cannabidiol What do we know thus far?
Frontiers in pharmacologyA systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Changes in seizure frequency and adverse events.
Epilepsy researchLennox-Gastaut syndrome in a patient with biallelic TELO2 variants.
Epileptic disorders : international epilepsy journal with videotapeResolution of generalized tonic seizures following focal ablative or resective surgery.
Epileptic disorders : international epilepsy journal with videotapeEfficacy of vagus nerve stimulator during transition to adulthood in patients with treatment-resistant epilepsy.
Epileptic disorders : international epilepsy journal with videotapeBiomarker discovery in Lennox-Gastaut syndrome: Advances and challenges in electrophysiological, genetic, neuroimaging, and neuroinflammatory approaches.
Epilepsy & behavior : E&BIctal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.
Italian journal of pediatricsSafety and efficacy of vigabatrin add on compared to placebo in Lennox-Gastaut syndrome (LennoVig): A single center randomized double-blind placebo-controlled trial.
Journal of the neurological sciencesGlobal, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.
Nature medicineElectro-Clinical and Radiological Correlates in Children with Lennox-Gastaut Syndrome Secondary to Hypoxic-Ischemic Encephalopathy.
Indian journal of pediatricsA temporary spike: Investigating Lennox-Gastaut syndrome incidence in the US following FDA approval of cannabidiol.
Epileptic disorders : international epilepsy journal with videotapeInvasive Neuromodulation in Lennox-Gastaut Syndrome: A Systematic Review and Meta-Analysis.
Neuromodulation : journal of the International Neuromodulation SocietyPharmacological and Pharmacokinetic Profile of Cannabidiol in Human Epilepsy: A Review of Metabolism, Therapeutic Drug Monitoring, and Interactions with Antiseizure Medications.
BiomoleculesSleep in Lennox-Gastaut Syndrome: A Scoping Review.
Children (Basel, Switzerland)Fenfluramine for seizures associated with Dravet syndrome and Lennox-Gastaut syndrome.
Australian prescriberHistory of Lennox-Gastaut Syndrome: Sixty Years of Advancements in Therapeutic Practices.
SeizureLennox-Gastaut syndrome: Comorbidities and clinical implications.
Seminars in pediatric neurology"William G. Lennox: A legacy of compassion and controversy".
Seminars in pediatric neurologyExpanding the toolkit: An update on the evolution of new therapies for Lennox-Gastaut Syndrome.
Seminars in pediatric neurologyFeasibility of sleep assessment modalities in children with Lennox-Gastaut syndrome.
Seminars in pediatric neurologyLate onset Lennox-Gastaut syndrome.
Seminars in pediatric neurologyQuality of life in individuals with Lennox-Gastaut syndrome and their families.
Seminars in pediatric neurologyDietary therapies in Lennox-Gastaut syndrome.
Seminars in pediatric neurologyNeuromodulation in Lennox-Gastaut Syndrome: Emerging therapies and future directions.
Seminars in pediatric neurologyLennox-Gastaut syndrome: Progress, challenges, and future directions.
Seminars in pediatric neurologySurgical management of Lennox-Gastaut syndrome: A focused update on resective surgery and corpus callosotomy.
Seminars in pediatric neurologyNeurostimulation in children with drug-resistant epilepsy: strategies in subcortical targeting and systematic review of the evidence.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEfficacy, safety, and predictors of vagus nerve stimulation in children with drug-resistant epilepsy: A single-center prospective study.
Clinical neurology and neurosurgeryPsychometric validation of the quality of life Inventory - Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndrome.
Epilepsy & behavior : E&BRelieving the Weight: Fenfluramine's Re-emergence as Antiseizure Medication for Lennox-Gastaut and Dravet Syndrome.
The Annals of pharmacotherapyStiripentol use in Dravet syndrome patients in the USA: Results of a real-world study.
Epilepsia openEEG functional connectivity as a marker of evolution from infantile epileptic spasms syndrome to Lennox-Gastaut syndrome.
EpilepsiaOrganizational and behavioral models in the management of patients with developmental and epileptic encephalopathy, Lennox-Gastaut syndrome and Dravet syndrome in Italy: a focus on the transition from pediatric to adult care.
Frontiers in health servicesEndoscopic Pyloromyotomy Through Mature Gastrostomy for Refractory Gastroparesis in Complex Surgical Anatomy.
ACG case reports journalRefractory focal epilepsy evolving into a Lennox-Gastaut syndrome-like.
Journal of neurologySystematic review of indirect costs to families of children with developmental epileptic encephalopathies.
Orphanet journal of rare diseasesHistory of Lennox-Gastaut Syndrome: An electro-clinical voyage in search of an epileptic syndrome.
SeizureCenobamate for Difficult-to-Treat Epilepsy - Selected Case Vignettes.
Neuropsychiatric disease and treatmentParadoxical exacerbation of tonic seizures following benzodiazepine use in Lennox-Gastaut syndrome.
Epileptic disorders : international epilepsy journal with videotapeAnti-convulsant efficacy of long-acting injectable cannabidiol formulation (IVL5005) in the pentylenetetrazol-induced convulsions, with pharmacokinetic characterization.
Frontiers in pharmacologyGender Trends in Professional Advancement Among Academic Pediatric Neurologists.
JAMA network openReal-world efficacy and safety of cannabidiol in developmental and epileptic encephalopathies.
Epilepsia openLennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop.
EpilepsiaFenfluramine treatment beyond dravet and lennox-gastaut syndromes - A retrospective study suggesting a novel use in genetic, developmental and epileptic encephalopathies (DEEs).
SeizureCase Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype-phenotype correlation study in eight pediatric cases.
Frontiers in neuroscienceBexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).
EpilepsiaVagus nerve stimulation therapy in Lennox-Gastaut syndrome (severe childhood epilepsy): plain language summary of a 2-year study.
Expert review of neurotherapeuticsEpilepsy in children and adolescents with B-cell acute lymphoblastic leukemia.
Epilepsy researchDevelopmental and epileptic encephalopathies: From current care to future perspectives - insights from epilepsy centres in Lombardy, Italy.
Epilepsy & behavior : E&BCenobamate in pediatric epilepsy and developmental and epileptic encephalopathies: Efficacy, safety, and syndrome-specific considerations.
Epilepsy & behavior : E&BFenfluramine and Comparative Antiseizure Therapies in Drug-Resistant Epilepsy: A Systematic Review of Efficacy, Cardiometabolic Safety, and Clinical Outcomes.
CureusFinal analysis from an open-label extension study of fenfluramine for the treatment of seizures in Lennox-Gastaut syndrome: long-term impact on patients and caregivers.
Epilepsy & behavior : E&BBiallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation.
SeizurePharmacovigilance study on old drugs repurposed for rare diseases across different indications: the case of fenfluramine.
Frontiers in pharmacologySeizure classification using a multimodal seizure monitoring system (Nelli) in Dravet and Lennox-Gastaut syndromes: A non-randomized, single-center feasibility study.
EpilepsiaRecent Advances in the Management of Seizures in Children.
Paediatric drugsNon-Pharmacological Treatment Methods of Lennox-Gastaut Syndrome-Review of the Literature.
BiomedicinesEpidemiology and Burden of Illness of Lennox-Gastaut Syndrome in Taiwan: A Retrospective Cohort Study.
Risk management and healthcare policyCase Report: A case of traumatic subgaleal hematoma with delayed massive exophthalmos.
Frontiers in surgeryAvailability and affordability of cannabinoids for epilepsy treatment across different geographic settings-A survey from the ILAE Plant-Based Therapy Task Force.
EpilepsiaOptimal stimulation of the thalamic centromedian nucleus in children with Lennox-Gastaut syndrome: patient series.
Journal of neurosurgery. Case lessonsNonseizure symptoms and broader seizure impacts in patients with Dravet syndrome and Lennox-Gastaut syndrome in clinical practice settings: Results from a multinational survey.
Epilepsia openAssessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.
European journal of neurologyNeuromodulation for Epilepsy.
Neurologia medico-chirurgicaCurrent practices and trends in surgical decision-making for children with Lennox-Gastaut syndrome: A cross-sectional survey by the Pediatric Epilepsy Research Consortium.
Epilepsia openRufinamide Mitigates Seizures and Behavioural Deficits via BDNF/TrkB Modulation and Oxidative Stress Reduction in Pentylenetetrazole-Kindled Mice.
Clinical and experimental pharmacology & physiologyPerampanel, Brivaracetam, Cenobamate, Stiripentol, and Ganaxolone in Lennox-Gastaut Syndrome: A Comprehensive Narrative Review.
Journal of clinical medicineTherapeutic use of cannabis and cannabinoids: benefits and risks.
Polish archives of internal medicineEpileptic drop attacks: More than just atonic seizures.
Epilepsia openDistinct T Cell Dysregulation Reflects Disease Severity and Progression in Infantile Epileptic Spasms Syndrome and Lennox-Gastaut Syndrome.
Immune networkFuture potential of responsive neurostimulation for the treatment of Lennox-Gastaut syndrome.
Expert review of medical devicesEffects of Centromedian Nucleus Stimulation on Interictal Scalp EEG Burden in Lennox-Gastaut Syndrome.
Stereotactic and functional neurosurgery[Low Abuse Potential of Plant-Derived Highly Purified Cannabidiol: A Narrative Review].
Yakugaku zasshi : Journal of the Pharmaceutical Society of JapanA survey of adult caregivers of people with developmental and epileptic encephalopathies: A long-term care planning needs assessment.
Epilepsy & behavior : E&BEfficacy, safety and tolerability of adjunctive cenobamate in pediatric and adult patients with Lennox Gastaut Syndrome.
Epilepsy & behavior : E&BFrom Felbamate to Carbamazepine: Clinical Consequences of Unintentional Antiepileptic Substitution in Refractory Epilepsy.
CureusCannabidiol Lacks Direct Effect on Cortical Excitability: A Randomized, Double Blind, Placebo Controlled, 3-Way Crossover Trial.
Clinical pharmacology and therapeuticsAntiseizure medications in CDKL5 encephalopathy- systematic review.
SeizureNew and emerging pharmacotherapeutic options for the treatment of lennox-gastaut syndrome: moving forward in 2025.
Expert review of neurotherapeuticsDelineation of the Centromedian Nucleus for Epilepsy Neuromodulation Using Deep Learning Reconstruction of White Matter-Nulled Imaging.
AJNR. American journal of neuroradiologyCirculating metabolomic changes in Lennox-Gastaut syndrome: correlation with clinico-radiological severity.
Neurochemistry internationalNovel Medication Ganaxolone for Seizure Disorders.
Discoveries (Craiova, Romania)The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.
European journal of neurologyClinically Meaningful Reduction in Drop Seizures in Patients with Lennox-Gastaut Syndrome Treated with Cannabidiol: Post Hoc Analysis of Phase 3 Clinical Trials.
CNS drugsEvaluating cannabidiol-induced liver injury with and without valproate using a three-dimensional human hepatocyte spheroid model.
Toxicology in vitro : an international journal published in association with BIBRAFrontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future.
Epilepsia openEfficacy of Low-Dose Fenfluramine on Adult Patients With Lennox-Gastaut Syndrome.
CureusEfficacy and safety of cannabidiol in a single-center pediatric drug-resistant epilepsy cohort: a retrospective study.
Frontiers in neurologyStereotactic Laser Ablation vs Open Corpus Callosotomy: A Systematic Review and Meta-Analysis of Individual Patient Data.
Operative neurosurgery (Hagerstown, Md.)Nuclear neuroimaging in childhood epilepsy syndromes: A systematic review.
Epilepsy & behavior : E&BUse of cannabidiol for off-label treatment of patients with refractory focal, genetic generalised and other epilepsies.
Neurological research and practiceNavigating the Diagnosis: A survey on Caregivers' Journeys to Lennox-Gastaut Syndrome.
Epilepsy & behavior : E&BEpileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study.
Pediatric neurologyComparative efficacy of neuromodulation therapies in Lennox-Gastaut syndrome: A systematic review and meta-analysis of vagus nerve stimulation, deep brain stimulation, and responsive neurostimulation.
EpilepsiaRetrospective Multicenter Chart Review Study of Adjunctive Cannabidiol for Seizures Associated with Lennox-Gastaut Syndrome, Dravet Syndrome and Tuberous Sclerosis Complex.
Neurology and therapyDysregulation of the Cannabinoid System in Childhood Epilepsy: From Mechanisms to Therapy.
International journal of molecular sciencesInnovative first-order UV and fluorescence spectroscopic methods for the quantification of rufinamide in the presence of its toxic degradant: Application of AGREE tool.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopyHome ultra-long EEG monitoring in Lennox-Gastaut syndrome by subscalp EEG: opportunities and challenges.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyEffectiveness and safety of perampanel in Lennox-Gastaut syndrome: a GRADE-assessed systematic review and meta-analysis.
Naunyn-Schmiedeberg's archives of pharmacologyComparative effectiveness of epilepsy surgery versus additional anti-seizure medications for Lennox-Gastaut syndrome: study protocol for a multicenter, mixed-methods study.
Frontiers in neurologyGlobal, regional, and national trends in routine childhood vaccination coverage from 1980 to 2023 with forecasts to 2030: a systematic analysis for the Global Burden of Disease Study 2023.
Lancet (London, England)Long-term outcomes of corpus callosotomy in adult patients with drug-resistant epilepsy: Results from a single neurosurgical center in Mexico.
Epilepsia openCenobamate for Adjunctive Treatment in Adult and Pediatric Patients with Refractory Lennox-Gastaut Syndrome: A Retrospective Chart Review.
Neurology and therapyNeuropathologic Findings in Lennox-Gastaut Syndrome (SCN2A-Related): A Case Report and Review of Literature.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyEffectiveness and safety of cenobamate in Lennox-Gastaut syndrome: A multicenter real-world study in Spain.
SeizureSeizure reporting in older patients with developmental and epileptic encephalopathies: A retrospective review of ambulatory video-EEG reports.
SeizureEEG changes and seizure outcomes following anterior corpus callosotomy in adults with Lennox-Gastaut syndrome: A single-center experience.
Epilepsy researchSystematic Review and Meta-Analysis of Bilateral Centromedian Nucleus Neuromodulation for Multifocal and Generalized Epilepsy.
Neuromodulation : journal of the International Neuromodulation SocietyChronic thalamic recordings for idiopathic generalized epilepsy and Lennox-Gastaut syndrome: Ictal and interictal electrophysiological findings.
Epilepsia openPotential of cenobamate as a broad-spectrum antiseizure medication.
Expert opinion on pharmacotherapyCurrent and emerging pharmacotherapies in Lennox-Gastaut syndrome.
Expert opinion on pharmacotherapyDrug-drug interaction between anti-seizure medications in Dravet syndrome and Lennox-Gastaut syndrome.
Expert opinion on drug metabolism & toxicologySeizure-type-specific treatment responses in Lennox-Gastaut Syndrome: A comprehensive review of pharmacological, neuromodulatory, dietary, and surgical therapies.
Epilepsy & behavior : E&BFenfluramine: an effective treatment for developmental epileptic encephalopathies beyond Dravet and Lennox-Gastaut Syndromes.
Journal of neurologyCaregiver-reported non-seizure and seizure outcomes with cannabidiol and clobazam in patients aged ≥2 years with Lennox-Gastaut syndrome or Dravet syndrome: A subgroup analysis of the BECOME survey.
SeizureEfficacy, safety, and tolerability of soticlestat (TAK-935) as adjunctive therapy in pediatric patients with dravet syndrome and Lennox-Gastaut syndrome: a meta-analysis of 3 randomized controlled trials.
Frontiers in pharmacologyAppropriate selection of participants in pediatric developmental and epileptic encephalopathy trials: Lessons learned and future opportunities.
EpilepsiaPrecision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy.
Children (Basel, Switzerland)Adjunctive use of cannabidiol in pediatric drug-resistant epilepsy: A retrospective multicenter analysis.
Epilepsy & behavior : E&BCannabidiol in Drug-Resistant Epilepsy (DRE) in Children: A Retrospective Study.
Indian pediatricsElectroclinical characteristics and therapies of tonic spasms.
Acta epileptologicaCost Utility of Specialist Physiotherapy for Functional Motor Disorder (Physio4FMD): Economic Analysis of a Pragmatic Randomized Controlled Trial.
Neurology. Clinical practiceDoes deep brain stimulation of the anterior nucleus of the thalamus represent the future of Lennox-Gastaut syndrome?
Journal of neurologyPhenotypic Manifestations of a New Variant in HDAC4 Gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsMobilizing a New Era in Lennox-Gastaut Syndrome Treatment and Prevention.
Epilepsy currentsMapping Healthy and Epileptic States in the Centromedian Nucleus Region.
Neuromodulation : journal of the International Neuromodulation SocietyCenobamate in developmental and epileptic encephalopathies and generalized epilepsies: A case report on epilepsy with myoclonic-atonic seizures and systematic review of current evidence.
SeizureExpanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.
EpilepsiaInterictal paroxysmal fast activity and functional connectivity in steroid responsive and non-responsive Lennox-Gastaut syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyCenobamate efficacy in specific populations.
EpilepsiaEfficacy and safety of pharmacological and non-pharmacological therapies in Lennox-Gastaut syndrome: a systematic review and network meta-analysis.
Frontiers in pharmacologyReal-world experience of cannabidiol in conjunction with clobazam for the treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome: Results from a retrospective multicentre chart review in Germany.
Epilepsy & behavior : E&BValue of cannabidiol as adjunctive treatment for Lennox Gastaut syndrome: cost-effectiveness and budget impact analysis.
BMC medicineIntracranial Disease Region Composite Interpretation Technology for Enhanced Source Localization in Pediatric Epilepsy Surgery.
IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology SocietyNeuromodulation as a treatment strategy in Lennox-Gastaut syndrome: evidence and future directions.
Expert review of neurotherapeuticsExpert-Agreed Practical Recommendations on the Use of Fenfluramine in Developmental and Epileptic Encephalopathies Based on Clinical Experience and Literature Review.
Neurology and therapyDevelopment and refinement of the Clinical Global Impression of Improvement for Non-seizure Symptoms measure in Dravet syndrome and Lennox-Gastaut syndrome.
Journal of patient-reported outcomesA review of the putative antiseizure and antiepileptogenic mechanisms of action for soticlestat.
EpilepsiaDevelopment of cohort definitions and algorithms to identify patients with Lennox-Gastaut syndrome or Dravet syndrome from real-world administrative healthcare databases.
HeliyonInfantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.
SeizureA multicenter cohort study on the efficacy, retention, and tolerability of cenobamate in patients with developmental and epileptic encephalopathies.
EpilepsiaVagus nerve stimulation in Lennox-Gastaut syndrome: Twenty-four-month data and experience from the CORE-VNS study.
EpilepsiaMild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy: A Systematic Review.
Neurology. GeneticsThe use of cannabidiol in patients with Lennox-Gastaut syndrome and Dravet syndrome in the UK Early Access Program: A retrospective chart review study.
Epilepsy & behavior reportsComparing the cannabidiol-induced transcriptomic profiles in human and mouse Sertoli cells.
ToxicologyDe Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature.
American journal of medical genetics. Part AStereoelectroencephalographic exploration and surgical outcome in Lennox-Gastaut syndrome.
EpilepsiaTreatment of pediatric drug-resistant generalized epilepsy with responsive neurostimulation of the centromedian nucleus of the thalamus: A case series of seven patients.
Epilepsy researchCognitive and behavioral impact of antiseizure medications, neuromodulation, ketogenic diet, and surgery in Lennox-Gastaut syndrome: A comprehensive review.
Epilepsy & behavior : E&BAntiseizure medications for Lennox-Gastaut Syndrome: Comprehensive review and proposed consensus treatment algorithm.
Epilepsy & behavior : E&BLong-term outcome and predictors of vagus nerve stimulation for drug-resistant epilepsy: Real-world evidence from the Korean national hospital consortium.
Epilepsy researchFavorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy.
Epilepsy & behavior reportsFirst case report of effective and safe application of cannabidiol to treat concurrent ALG3-CDG and Lennox-Gastaut Syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyManagement of Status Epilepticus and Infections in a Patient with Lennox Gastaut Syndrome.
The Canadian journal of hospital pharmacyNeuromodulation Strategies in Lennox-Gastaut Syndrome: Practical Clinical Guidance from the Pediatric Epilepsy Research Consortium.
Epilepsy researchA personalized multi-platform assessment of somatic mosaicism in the human frontal cortex.
bioRxiv : the preprint server for biologySevere congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report.
Pediatric endocrinology, diabetes, and metabolismCost-Utility Analysis of Add-on Cannabidiol vs Usual Care Alone for the Treatment of Seizures in Patients With Treatment-Resistant Lennox-Gastaut Syndrome or Dravet Syndrome in the Netherlands.
Journal of health economics and outcomes researchPromising therapeutic strategies for Lennox-Gastaut syndrome: what's new?
Expert review of neurotherapeuticsElementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome.
SeizureRefining management strategies for Lennox-Gastaut syndrome: Updated algorithms and practical approaches.
Epilepsia openSuccessful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome.
The Tohoku journal of experimental medicineResolution of Fenfluramine-associated pulmonary arterial hypertension in Lennox-Gastaut syndrome: A case report and literature review.
Epilepsy & behavior reportsCannabidiol prescribing in the United States: An analysis of real-world data.
Drug and alcohol dependence reportsA Multicenter Retrospective Observational Cohort Study of Seizure Freedom before Lennox-Gastaut Syndrome (the "Gap"). Opportunities for Prevention.
medRxiv : the preprint server for health sciencesUnderstanding the Burden of Lennox-Gastaut Syndrome: Implications for Patients, Caregivers, and Society in High and Low Resource Settings: A Narrative Review.
Health science reportsDiscovering EEG biomarkers of Lennox-Gastaut syndrome through unsupervised time-frequency analysis.
EpilepsiaEvaluating the patient needs and tolerability of Clobazam liquid formulation (Likozam® 1 mg/mL): A French patient and care-givers' centered survey.
Epilepsy & behavior : E&BPerampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term.
Scientific reportsThe efficacy of vagus nerve stimulation for epilepsy in Malaysia.
The Medical journal of MalaysiaUpdate on Cannabidiol in Drug-Resistant Epilepsy.
Indian journal of pediatricsEfficacy and safety of perampanel in patients with seizures associated with Lennox-Gastaut syndrome: A randomized trial.
EpilepsiaCannabinoid-like compounds found in non-cannabis plants exhibit antiseizure activity in genetic mouse models of drug-resistant epilepsy.
EpilepsiaCannabidiol Treatment for Adult Patients with Drug-Resistant Epilepsies: A Real-World Study in a Tertiary Center.
Brain and behaviorClinical trials for Lennox-Gastaut syndrome: Challenges and priorities.
Annals of clinical and translational neurologyBilateral pulvinar responsive neurostimulation for bilateral multifocal posteriorly dominant drug resistant epilepsy.
Epilepsia openCannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder.
International journal of molecular sciencesNeuromodulation strategies in developmental and epileptic encephalopathies.
Epilepsy & behavior : E&BDisproportionality analysis of the safety profile of rufinamide in the real world: an evaluation of the FDA Adverse Event Reporting System database.
Expert opinion on drug safetyComparative Analysis of Lennox-Gastaut Syndrome With Different Subtypes of Tonic Seizures: A Single-Center Retrospective Cohort Study.
Pediatric neurologyShort-term effectiveness and side effects of ketogenic diet for drug-resistant epilepsy in children with genetic epilepsy syndromes.
Frontiers in neurologyBrivaracetam use in children with epilepsy: A retrospective multicenter study.
SeizureDirectional deep brain stimulation of the centromedian thalamic nucleus reduces DBS-induced ataxia and dysarthria in Lennox-Gastaut Syndrome: A single case study.
Clinical neurophysiology practiceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.
- Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies.
- Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.
- Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.
- Safety and efficacy of vigabatrin add on compared to placebo in Lennox-Gastaut syndrome (LennoVig): A single center randomized double-blind placebo-controlled trial.
- Real-world effectiveness and tolerability of highly purified cannabidiol in patients with monogenic developmental and epileptic encephalopathies with highly active epilepsy.
- Soticlestat for drug-resistant epilepsy: Current evidence and clinical perspectives.
- Practical Recommendations for Cardiology Follow-Up in Patients Treated with Fenfluramine Based on Expert Opinion and Clinical Experience.
- Preclinical models of Lennox-Gastaut syndrome: Progress and priorities.
- EEG findings in Lennox-Gastaut syndrome: Pursuing a moving target.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2382(Orphanet)
- OMIM OMIM:606369(OMIM)
- MONDO:0016532(MONDO)
- GARD:9912(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1544884(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
