A síndrome de epilepsia generalizada idiopática hereditária mais comum é caracterizada por espasmos mioclônicos dos membros superiores ao acordar, convulsões tônico-clônicas generalizadas que se manifestam durante a adolescência e são desencadeadas por privação de sono, ingestão de álcool e atividades cognitivas, e crises de ausência típicas (30% dos casos).
Introdução
O que você precisa saber de cara
A síndrome de epilepsia generalizada idiopática hereditária mais comum é caracterizada por espasmos mioclônicos dos membros superiores ao acordar, convulsões tônico-clônicas generalizadas que se manifestam durante a adolescência e são desencadeadas por privação de sono, ingestão de álcool e atividades cognitivas, e crises de ausência típicas (30% dos casos).
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
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 60 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
9 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.
Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Microtubule-associated protein which regulates cell division and neuronal migration during cortical development (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142)
Cytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, flagellum axonemeCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, spindle pole
Juvenile myoclonic epilepsy 1
A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death
Endoplasmic reticulum membraneEndoplasmic reticulum-Golgi intermediate compartment membraneEndoplasmic reticulum
Ceroid lipofuscinosis, neuronal, 8
A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Delta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). 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) (PubMed:35355020). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the
Cell membrane
Generalized epilepsy with febrile seizures plus 5
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.
May bind DNA
Nucleus
Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability (PubMed:16319223, PubMed:27564677, PubMed:28793216, PubMed:9872318). M-channel is composed of pore-forming subunits KCNQ2 and KCNQ3 assembled as heterotetramers (PubMed:14534157, PubMed:16319223, PubMed:27564677, PubMed:9872318). The native M-current has a slowly activating and deactivating potassium conductance which plays a critical role in determ
Cell membrane
Seizures, benign familial neonatal 2
A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset.
Alpha subunit of the heteropentameric ligand-gated chloride channel gated by Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725, 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) (PubMed:29950725, PubMed:30602789). When activated by GA
Postsynaptic cell membraneCell membraneCytoplasmic vesicle membrane
Epilepsy, childhood absence 4
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.
Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAM
NucleusCytoplasm, cytosolCell projection, ciliumCytoplasm, cytoskeleton, cilium basal bodyCytoplasm
Endocrine-cerebroosteodysplasia
Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.
The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting
Epilepsy, idiopathic generalized 9
A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
Voltage-gated and osmosensitive chloride channel. Forms a homodimeric channel where each subunit has its own ion conduction pathway. Conducts double-barreled currents controlled by two types of gates, two fast glutamate gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously. Displays inward rectification currents activated upon membrane hyperpolarization and extracellular hypotonicity (PubMed:16155254, PubMed:17567819, PubMed:19
Cell membraneBasolateral cell membraneCell projection, dendritic spine membraneCell projection, axon
Epilepsy, idiopathic generalized 11
A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
505 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 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 — Epilepsia mioclônica juvenil
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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
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
4 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.
This study examined self-esteem, body image, alexithymia, and aggression in adolescents with idiopathic/genetic generalized epilepsy (IGE). These domains were selected because they may be affected not only by epilepsy itself but also by stigma, difficulties in emotional regulation, or treatment-related effects. Assessing these domains together was intended to examine whether IGE might be associated with additional psychosocial strain in otherwise clinically stable adolescents. We carried out a case-control study including 45 adolescents with IGE and 45 controls matched for age and sex. Controls were selected from outpatient services and were required to have no neurological disorders. Psychiatric disorders were assessed using the K-SADS (Kiddie Schedule for Affective Disorders and Schizophrenia) interview; no clinically significant psychiatric diagnoses were identified in the control group. All participants completed standardized Turkish questionnaires on the same day.Within the epilepsy group, 20.0% were diagnosed with juvenile absence epilepsy (JAE), 22.2% with juvenile myoclonic epilepsy (JME), and 57.8% with epilepsy with generalized tonic-clonic seizures alone (EGTCSA). Across all four psychological measures, the epilepsy and control groups showed no statistically significant differences (all p > 0.05). No significant differences were found in subgroup analyses based on epilepsy syndrome or seizure frequency. Adolescents with well-controlled IGE and minimal psychiatric comorbidities demonstrated comparable levels of psychosocial functioning to their healthy peers. This finding is consistent with evidence suggesting that psychosocial difficulties in epilepsy are often linked to comorbidity and contextual factors rather than to the diagnosis alone. Studies conducted in broader settings and with larger, more varied samples will be needed to better understand how medical, emotional, and environmental factors jointly influence psychosocial outcomes in this population. • Adolescents with epilepsy are frequently considered at increased risk for psychosocial difficulties, including lower self-esteem, emotional instability, and body image concerns. • In this study, no significant differences were found in self-esteem, body image, alexithymia, or aggression among Turkish adolescents with idiopathic/genetic generalized epilepsy compared with healthy controls. These findings suggest that, when seizures are well controlled and psychiatric comorbidities are limited, epilepsy itself may not confer additional psychosocial vulnerability.
Transcriptional and neurotransmitter signatures associated with regional gray matter alterations in juvenile myoclonic epilepsy.
The neurobiological basis of gray matter (GM) alterations in juvenile myoclonic epilepsy (JME) remains poorly understood. This study aimed to identify robust GM changes and their underlying molecular signatures. We performed an updated coordinate-based meta-analysis of 15 voxel-based morphometry studies (394 JME patients, 448 healthy controls) and integrated the resulting GM alteration map with data from the Allen Human Brain Atlas and neurotransmitter atlases using advanced spatial correlation, gene enrichment, and network analysis approaches. Our analysis revealed a consistent pattern of GM decreases in the sensorimotor areas and increases in regions implicated in emotion and cognition. These structural changes were spatially correlated with a set of 926 genes enriched for pathways related to ion channel activity, synaptic function, neuronal processes, and cellular metabolism, which showed peak expression during neurodevelopmental periods coinciding with JME onset. Protein-protein interaction analysis identified hub genes from two key functional classes: transcriptional regulators linked to circadian rhythms, and cellular signaling molecules including established monogenic epilepsy genes. Furthermore, the GM map correlated significantly with the spatial distributions of the serotonin, dopamine, and acetylcholine neurotransmitter systems. While these associations are based on data from healthy donors and require further validation, our findings bridge the gap between macroscopic brain alterations and their underlying molecular architecture in JME. This provides an integrated model of its pathophysiology and highlights potential therapeutic avenues.
Exploring Balance and Functional Mobility in Children with Juvenile Myoclonic Epilepsy, Effects of Cognitive and Motor Dual-Tasks: An Exploratory Pilot Study.
This pilot study aimed to assess the dual-task performance and balance ability in children and adolescents with Juvenile Myoclonic Epilepsy (JME). Additionally, it sought to investigate the impact of dual-task conditions on functional performance and explore relationship between balance ability and dual-task performance. Ten children and adolescents with JME (mean age 16.90 ± 1.20 years) were evaluated. Static and dynamic balance were assessed using the Balance Master System, with modified Clinical Test of Sensory Interaction on Balance (mCTSIB) and Limit of Stability tests measuring static and dynamic balance, respectively. The mCTSIB and TUG tests were performed under single- and dual-task (motor-motor, cognitive-motor) conditions. No significant differences were found in mCTSIB test between single-task and dual-task conditions (p > 0.05). However, TUG completion time increased under cognitive-motor dual-task conditions (p < 0.05). There was no significant correlation between balance and dual-task performance (p > 0.05). This exploratory pilot study, conducted without a control group, suggests that children with JME may face difficulties with tasks requiring both cognitive and motor functions, as cognitive-motor dual tasks significantly increased task completion time. Lower scores in certain balance measures suggest a potential risk of balance impairment. These findings underscore the importance of integrating both cognitive-motor dual-task and balance assessments into rehabilitation programs for children with JME.
Effects of lipid-lowering drugs on epilepsy and its subtypes: A drug-target Mendelian randomization study.
Statins, commonly used lipid-lowering drugs to reduce cardiovascular risk, have also been suggested to have protective effects against epilepsy. However, whether this association is causal remains unclear. We conducted a drug-target Mendelian randomization study to examine the effects of genetically predicted inhibition of 3 established lipid-lowering targets (3-hydroxy-3-methylglutaryl coenzyme A reductase [statins], Niemann-Pick C1-Like 1 [ezetimibe], and proprotein convertase subtilisin/kexin type 9 [PCSK9 inhibitors]) on epilepsy and its subtypes. The inverse-variance weighted approach served as the primary analysis, supplemented with multiple sensitivity tests to ensure robustness. Genetically proxied 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibition was associated with decreased risks of epilepsy (odds ratio [OR] = 0.87; 95% confidence interval [CI]: 0.82-0.92; P = 1.4 × 10-6) and focal epilepsy (OR = 0.83; 95% CI: 0.76-0.92; P = 1.5 × 10-4). Inhibition of Niemann-Pick C1-Like 1 corresponded to a lower risk of generalized epilepsy with tonic-clonic seizures (OR = 0.98; 95% CI: 0.97-0.98; P = 1.2 × 10-34) but increased risks of focal epilepsy (lesion negative, OR = 1.08; 95% CI: 1.06-1.09; P = 5.9 × 10-31), childhood absence epilepsy (OR = 1.06; 95% CI: 1.05-1.07; P = 1.8 × 10-21), and juvenile absence epilepsy (OR = 1.03; 95% CI: 1.01-1.05; P = 9.7 × 10-3). PCSK9 inhibition was linked to reduced risks of generalized epilepsy with tonic-clonic seizures (OR = 0.99; 95% CI: 0.98-1.00; P = 1.4 × 10-2), juvenile absence epilepsy (OR = 0.96; 95% CI: 0.93-1.00; P = 2.7 × 10-2), and juvenile myoclonic epilepsy (OR = 0.96; 95% CI: 0.93-1.00; P = 2.9 × 10-2). The effects of lipid-lowering drug targets on epilepsy risk vary by target and exhibit pleiotropy. Statins and PCSK9 inhibitors appear protective against epilepsy and several subtypes, whereas ezetimibe may increase susceptibility to certain subtypes. These results underscore the importance of considering target-specific effects when choosing lipid-lowering therapies for patients with or at risk of epilepsy.
Sleep disorders in patients with juvenile myoclonic epilepsy: A polysomnographic investigation.
Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy precipitated by sleep deprivation and display a circadian distribution. This study aimed to determine the frequency of sleep disorders (insomnia, snorring, sleep apnea, restless leg syndrome, bruxism, hipersomnia) and sleep architecture in JME, to evaluate associations with seizure variables and antiseizure medications, and to investigate polysomnographic parameters. Forty adults with JME and thirty healthy controls underwent overnight laboratory-based polysomnography. Participants completed the Beck Depression Inventory (BDI), Pittsburgh Sleep Quality Index (PSQI), and Epworth Sleepiness Scale (ESS). Insomnia and restless legs syndrome (RLS) were assessed according to ICSD-3 criteria. Sleep architecture, respiratory indices and periodic limb movements were analyzed. Patients on valproate(VPA) were compared with those on levetiracetam. Correlations between epilepsy duration, seizure frequency, and sleep parameters were also examined. JME patients showed significantly prolonged sleep latencies to N1, N2 stages. Minimum nocturnal oxygen saturation was lower, OSAS(obstructive sleep apnea syndrome), snoring were more frequent in JME group. Longer epilepsy duration correlated with poorer sleep efficiency, shorter total sleep time, and reduced N3 sleep, as well as increased wake after sleep onset. VPA was associated with higher BMI, higher AHI(Apnea hypopnea index) and ODI(oxygen desaturation index), lower minimum oxygen saturation, and lower QoLIE-31 "seizure worry" subscores. JME is characterized by prolonged NREM stage latencies, increased snoring, OSA and lower oxygen saturation. VPA therapy was associated with more severe respiratory disturbance, likely related to weight gain. Sleep disorders should routinely be screened for and appropriately managed in patients with JME, and antiepileptic treatment choices should be made with these factors in mind.
Publicações recentes
Thermodynamic rigidity of harmonic brain states relates to general mental ability in juvenile myoclonic epilepsy.
The network neuropsychology of neighborhood deprivation in juvenile myoclonic epilepsy.
Leukocytes Transcriptome Analysis of Genes Associated with Epilepsy Duration and Age of Onset.
Juvenile myoclonic epilepsy heterogeneity uncovered: Z-mapped imaging endophenotypes of cortical and subcortical structures and their clinical, cognitive and psychiatric features.
Coexistence of Mesial Temporal Sclerosis and Juvenile Myoclonic Epilepsy.
📚 EuropePMC773 artigos no totalmostrando 195
Effects of lipid-lowering drugs on epilepsy and its subtypes: A drug-target Mendelian randomization study.
MedicineInvestigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.
European journal of pediatricsSleep disorders in patients with juvenile myoclonic epilepsy: A polysomnographic investigation.
Epilepsy researchTranscriptional and neurotransmitter signatures associated with regional gray matter alterations in juvenile myoclonic epilepsy.
Frontiers in molecular neuroscienceRelevance of EEG recording time for juvenile myoclonic epilepsy diagnosis confirmation: a reappraisal.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologySyndrome-specific and familial imaging traits in juvenile absence epilepsy.
EpilepsiaWhite matter structure-function decoupling in juvenile myoclonic epilepsy.
NeuroImage. ClinicalEffective connectivity of face and fear processing in juvenile myoclonic epilepsy.
Epilepsy & behavior : E&BBidirectional causal relationships between epilepsy subtypes and psychiatric disorders: A two-sample mendelian randomization study.
Journal of affective disordersEpilepsy and stroke: A mendelian Randomization study.
Epilepsy researchTheory of mind in juvenile myoclonic epilepsy.
EpilepsiaCase Report: Electroacupuncture combined with transcutaneous auricular vagus nerve stimulation for treating antiseizure medication-resistant juvenile myoclonic epilepsy.
Frontiers in psychiatrySeizure freedom in pediatric juvenile myoclonic epilepsy: The roles of cognition, chronodependency, and EEG.
Archives de pediatrie : organe officiel de la Societe francaise de pediatriePersonality disorders in idiopathic generalized epilepsies in adults.
Journal of neurologyJuvenile Myoclonic Epilepsy in Children and Adolescents: The Effect of Antiseizure Medications on Cognitive Functions.
Journal of child neurologyAltered resting-state functional connectivity in the sleep-wake circuit in juvenile myoclonic epilepsy: A Seed-based fMRI study.
Epilepsy & behavior : E&BUsing Cenobamate for managing idiopathic generalized epilepsy: A single-center experience and systematic literature review.
Epilepsia openClinical and Electrophysiological Characteristics and Prognosis of Childhood Occipital Visual Epilepsy in Light of Current ILAE Criteria.
Clinical EEG and neuroscienceExploring Balance and Functional Mobility in Children with Juvenile Myoclonic Epilepsy, Effects of Cognitive and Motor Dual-Tasks: An Exploratory Pilot Study.
Physical & occupational therapy in pediatricsIncreased volumes of the precuneus and the pallidum in idiopathic generalized epilepsy.
Scientific reportsThe Many Faces of Juvenile Myoclonic Epilepsy.
Epilepsy currentsGeneral mental ability (Spearman's g) in Juvenile Myoclonic Epilepsy.
Epilepsia openEnhanced response inhibition in patients with drug-resistant juvenile myoclonic epilepsy: Event-related potentials evidence of excitatory-inhibitory imbalance.
Epilepsia openVoxel-based meta-analysis of gray matter abnormalities in idiopathic generalized epilepsy.
Cerebral cortex (New York, N.Y. : 1991)Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice.
EpilepsiaCausal Relationship Between Epilepsy, Status Epilepticus and Sleep-Related Traits: A Bidirectional Mendelian Randomization Study.
Brain sciencesFunctional connectivity network based on scalp electroencephalogram in juvenile myoclonic epilepsy.
SeizureMotor-associated thalamic nuclei are reduced in juvenile myoclonic epilepsy.
EpilepsiaEvidence of Sex-Related Pharmacodynamic Differences in Photosensitive Epilepsy Treated with Valproate: Findings from a Retrospective, Observational, Single-Center, Within-Patient, Cohort Study.
Drugs - real world outcomesFocus on epilepsy and epilepsy syndromes in children with autism spectrum disorders: a study of 74 patients.
Brain & developmentA possible role of Apolipoprotein E in Idiopathic Generalized Epilepsy.
Epilepsy & behavior : E&BGenome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsConnectomes in Temporal Lobe and Idiopathic Generalized Epilepsies.
Journal of clinical medicineJuvenile Myoclonic Epilepsy Adventure: A Retrospective Study.
Acta neurologica TaiwanicaLevetiracetam for myoclonic seizures in idiopathic generalized epilepsy: A systematic review and meta-analysis.
Epilepsy & behavior : E&BTopographic differences in EEG microstates: distinguishing juvenile myoclonic epilepsy from frontal lobe epilepsy.
Cognitive neurodynamicsJuvenile Myoclonic Epilepsy Imaging Endophenotypes and Relationship With Cognition and Resting-State EEG.
Human brain mappingAnalysis of brain network effective connectivity in juvenile myoclonic epilepsy.
Cognitive neurodynamicsA diagnosis and prediction algorithm for juvenile myoclonic epilepsy based on clinical and quantitative EEG features.
SeizureSubcortical gray matter changes in juvenile myoclonic epilepsy: a volBrain study.
Folia morphologicaAutobiographical memory impairment in genetic generalized epilepsies: neurocognitive and pathophysiological determinants.
Arquivos de neuro-psiquiatriaLong-term outcomes of treatment with levetiracetam and valproate in idiopathic generalized epilepsy.
SeizureThe causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis.
IbrainStudy of Eye Movements Abnormalities in Epilepsy.
Neuro-ophthalmology (Aeolus Press)Successful seizure control with cenobamate in juvenile myoclonic epilepsy.
Epileptic disorders : international epilepsy journal with videotapeClarithromycin-induced myoclonic status epilepticus.
Practical neurologyCognitive and brain health in juvenile myoclonic epilepsy: Role of social determinants of health.
EpilepsiaClinical Chronobiology: Circadian Rhythms in Health and Disease.
Seminars in neurologyThe network neuropsychology of juvenile myoclonic epilepsy.
Cortex; a journal devoted to the study of the nervous system and behaviorWomen With Genetic Epilepsies.
Neurology. GeneticsAssociation of valproate use and hippocampal atrophy in idiopathic generalized epilepsy.
NeuroImage. ClinicalWhat's the bug?: An unusual cause of bacterial meningitis in a patient with history of transsphenoidal surgery.
The American journal of emergency medicineCirculating microRNAs as Biomarkers of Various Forms of Epilepsy.
Medical sciences (Basel, Switzerland)Tremor as an intrinsic feature of juvenile myoclonic epilepsy.
EpilepsiaReconstruction and application of multilayer brain network for juvenile myoclonic epilepsy based on link prediction.
Cognitive neurodynamicsPower Spectral Density and Default Mode Network Connectivity in Generalized Epilepsy Syndromes: What to Expect from Drug-Resistant Patients.
BiomedicinesManagement and outcomes among older adults with generalized epilepsy in routine clinical practice.
Epilepsia openUnsupervised clustering of a deeply phenotyped cohort of adults with idiopathic generalized epilepsy.
EpilepsiaGeneralized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H).
Case reports in geneticsCausal Relationships Between Epilepsy, Anti-Epileptic Drugs, and Serum Vitamin D and Vitamin D Binding Protein: A Bidirectional and Drug Target Mendelian Randomization Study.
CNS neuroscience & therapeuticsEvidence of small vessel disease in patients with juvenile myoclonic epilepsy based on the peak width of skeletonized mean diffusivity.
SeizureAssessing the Need for Repeat EEG in Pediatric Patients with Idiopathic Generalized Epilepsy After Anti-Seizure Medication Withdrawal Following Seizure Freedom.
Journal of child neurologyEffects of anti-seizure medications on resting-state functional networks in juvenile myoclonic epilepsy: An EEG microstate analysis.
SeizureDid Joseph Conrad have juvenile myoclonic epilepsy?
EpilepsiaWhole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyTrends in antiseizure medication prescription in Idiopathic generalized epilepsy over the last 10 years.
Epilepsy & behavior : E&BGenetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.
Human genomicsEmotional Blind Spots in Juvenile Myoclonic Epilepsy.
Epilepsy currentsComparative analysis of processing speed impairments in TLE, FLE, and GGE: Theoretical insights and clinical Implications.
Epilepsy & behavior reportsCausal relationships between epilepsy and the microstructure of the white matter: A Mendelian randomization study.
MedicineLatent cognitive phenotypes in juvenile myoclonic epilepsy: Clinical, sociodemographic, and neuroimaging associations.
EpilepsiaAssociations between neurolinguistic deficits and personality traits in people with epilepsy.
Frontiers in neurologyRestricted Cortical Activity Involving Parietal Lobe and Sublobar Region Leads to Generalized Spike-Wave Discharges of Juvenile Myoclonic Epilepsy: Evidence from an EEG Source Localization Study.
Neurology IndiaQuality of Life, Its Determinants, and Psychiatric Comorbidities in Juvenile Myoclonic Epilepsy: A Cross-Sectional Observational Study From North India.
CureusUnraveling the shared genetics of common epilepsies and general cognitive ability.
SeizureGeneralized spike-waves in idiopathic generalized epilepsies: Does their frequency matter?
Brain and behaviorQuantitative MRI Measures and Cognitive Function in People With Drug-Resistant Juvenile Myoclonic Epilepsy.
NeurologyDevelopment and Validation of Artificial Intelligence Models for Prognosis Prediction of Juvenile Myoclonic Epilepsy with Clinical and Radiological Features.
Journal of clinical medicineEpilepsy associated with Graves' disease: Report of two cases.
SAGE open medical case reportsLamotrigine vs levetiracetam in female patients of childbearing age with juvenile absence epilepsy: A Bayesian reanalysis.
EpilepsiaAn Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.
CellsAltered effective connectivity of the default mode network in juvenile myoclonic epilepsy.
Cognitive neurodynamicsCausal links between serum micronutrients and epilepsy: a Mendelian randomization analysis.
Frontiers in neurologyThe epileptic blip syndrome.
Epilepsy & behavior reportsSodium valproate is associated with cortical thinning of disease-specific areas in juvenile myoclonic epilepsy.
Journal of neurology, neurosurgery, and psychiatryA complex case with generalized epilepsy, probable focal seizures, and functional seizures.
Epilepsy & behavior reportsSleep in juvenile myoclonic epilepsy: A systematic review.
SeizureAltered dynamic functional connectivity of motor cerebellum with sensorimotor network and default mode network in juvenile myoclonic epilepsy.
Frontiers in neurologyMultilayer network analysis in patients with juvenile myoclonic epilepsy.
NeuroradiologyAssessing the impact of circulating inflammatory cytokines and proteins as drivers and therapeutic targets in epilepsy: A Mendelian randomization study.
Epilepsy & behavior : E&BDissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology.
Neurology. GeneticsCorrelation Analysis of Multi-Scale Ictal EEG Signals in Juvenile Myoclonic Epilepsy.
Journal of integrative neurosciencePersonality disorders in people with epilepsy: a review.
Frontiers in psychiatryBrain functional network changes in patients with juvenile myoclonic epilepsy: a study based on graph theory and Granger causality analysis.
Frontiers in neuroscienceDeep brain stimulation of the subthalamic nucleus for a patient with drug resistant juvenile myoclonic epilepsy: 1 year follow-up.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAlterations in spatiotemporal characteristics of dynamic networks in juvenile myoclonic epilepsy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyThe co-activation patterns of multiple brain regions in Juvenile Myoclonic Epilepsy.
Cognitive neurodynamicsAARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings.
Frontiers in neurologyTranscranial brain parenchyma sonography in patients with juvenile myoclonic epilepsy.
Acta neurologica BelgicaA systematic review and meta-analysis of factors related to first line drugs refractoriness in patients with juvenile myoclonic epilepsy (JME).
PloS oneTranscranial electrical stimulation during functional magnetic resonance imaging in patients with genetic generalized epilepsy: a pilot and feasibility study.
Frontiers in neuroscienceIdiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Epilepsia openLong-term prognosis of patients with photosensitive idiopathic generalized epilepsy.
SeizureDrug-resistant generalized epilepsies: Revisiting the frontiers of idiopathic generalized epilepsies.
Revue neurologiqueClearance for Driving in Genetic Generalized Epilepsy.
Journal of child neurologySarcopenia and anti-seizure medication response in juvenile myoclonic epilepsy.
Brain and behaviorDrug-resistant juvenile myoclonic epilepsy: A literature review.
Revue neurologiqueResting-state electroencephalography microstates as a marker of photosensitivity in juvenile myoclonic epilepsy.
Brain communicationsWhole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Epilepsy researchIncreased Thalamic Connectivity in Juvenile Myoclonic Epilepsy Based on Electroencephalography Source-Level Analysis.
Brain connectivityDiffusion tensor imaging in photosensitive and nonphotosensitive juvenile myoclonic epilepsy.
Seizure[Reflex triggers in juvenile myoclonic epilepsy].
MedicinaStatus epilepticus in patients with genetic generalized epilepsy: a case series study.
Acta epileptologicaEFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.
SeizureLack of causal association between epilepsy and dementia: A Mendelian randomization analysis.
Epilepsy & behavior : E&BExploring causal correlations between systemic inflammatory cytokines and epilepsy: A bidirectional Mendelian randomization study.
SeizureAdolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom.
NeuropediatricsAssociation of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDifferences in the distribution of triggers among resting state networks in patients with juvenile myoclonic epilepsy explained by network analysis.
Frontiers in neuroscienceMRI-Based Radiomics Approach for Differentiating Juvenile Myoclonic Epilepsy from Epilepsy with Generalized Tonic-Clonic Seizures Alone.
Journal of magnetic resonance imaging : JMRIA comparison of comorbid headache between patients with temporal lobe epilepsy and juvenile myoclonic epilepsy.
Scientific reportsRecognition and perception of emotions in juvenile myoclonic epilepsy.
EpilepsiaLevetiracetam vs Lamotrigine as First-Line Antiseizure Medication in Female Patients With Idiopathic Generalized Epilepsy.
JAMA neurologySLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
NPJ genomic medicine[Idiopathic generalized epilepsies].
MedicinaGender differences in quality of life and psychiatric comorbidities among persons with juvenile myoclonic epilepsy: A single-center cross-sectional study.
Journal of neurosciences in rural practiceCheckmate: Chess-induced reflex seizures in patient with juvenile myoclonic epilepsy.
Epileptic disorders : international epilepsy journal with videotapeSeizure control with treatment of delayed sleep-wake phase disorder in juvenile myoclonic epilepsy: A case report.
Epilepsy & behavior reportsCognitive phenotype of juvenile absence epilepsy: An investigation of patients and unaffected siblings.
EpilepsiaOutcome of Absence Epilepsy With Onset at 8-11 Years of Age: Watershed Ages When Syndromes Overlap.
Journal of child neurologyOutpatient visit behavior in patients with epilepsy: Generalized Epilepsy is more frequently non-attendance than Focal Epilepsy.
Epilepsy & behavior : E&BMulti-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes.
NeuroImage. ClinicalAntiseizure medications for idiopathic generalized epilepsies: a systematic review and network meta-analysis.
Journal of neurologyFacial Emotion Recognition in Patients with Juvenile Myoclonic Epilepsy.
Journal of clinical medicineVariation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications.
Brain communicationsTwo-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy.
Brain & developmentFamilial Adult Myoclonic Epilepsy: Clinical and Genetic Approach to an Under-recognized Disease.
Noro psikiyatri arsiviA cognitive rehabilitation program to improve hot and cool executive dysfunction in juvenile myoclonic epilepsy: Preliminary findings.
Epilepsy & behavior : E&BStructural insights of novel mutational frames in Bromodomain Containing-2 gene (BRD2) in juvenile myoclonic epilepsy: bed, bench, and laptop profiles.
Epilepsy & behavior : E&BAlzheimer Disease and Epilepsy: A Mendelian Randomization Study.
NeurologyNeuropsychological profile and drug treatment response in Idiopathic Generalized Epilepsy.
SeizureJuvenile Myoclonic Epilepsy: Seizure and Social Outcomes in Taiwan.
Healthcare (Basel, Switzerland)Prevalence, nature, and severity of the psychiatric comorbidities and their impact on quality of life in adolescents with Juvenile myoclonic epilepsy.
Epilepsy & behavior : E&BVolume changes of medial temporal lobe structures in patients with genetic generalized and temporal lobe epilepsy in relation to neuropsychological functions.
Postepy psychiatrii neurologiiSub-region analysis of DMD gene in cases with idiopathic generalized epilepsy.
NeurogeneticsMultilayer brain network modeling and dynamic analysis of juvenile myoclonic epilepsy.
Frontiers in behavioral neuroscienceClinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series.
Epileptic disorders : international epilepsy journal with videotapeMyoclonic status epilepticus in patients with juvenile myoclonic epilepsy: Case reports and review of the literature.
Epileptic disorders : international epilepsy journal with videotapeThe role of additive and diffusive coupling on the dynamics of neural populations.
Scientific reportsDynamic flexibility and controllability of network communities in juvenile myoclonic epilepsy.
Neurobiology of diseaseClinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.
SeizureDifferential diagnosis of familial adult myoclonic epilepsy.
EpilepsiaNeurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyRadiomic Models for Diagnosing Juvenile Myoclonic Epilepsy Should Note Its Genetic Heterogeneity.
Korean journal of radiologyDiagnosis of comorbid migraine without aura in patients with idiopathic/genetic epilepsy based on the gray zone approach to the International Classification of Headache Disorders 3 criteria.
Frontiers in neurologyIsolated Unilateral EEG Findings in Juvenile Myoclonic Epilepsy: A Case Report.
Journal of epilepsy researchParoxysmal Slow-Wave Events Are Uncommon in Parkinson's Disease.
Sensors (Basel, Switzerland)Cluster analysis of a large dataset of patients with juvenile myoclonic epilepsy: Predicting response to treatment.
SeizureJuvenile Myoclonic Epilepsy 25 Years After Seizure Onset: A Population-Based Study.
NeurologyPrevalence of headache disorders in patients living with epilepsy in rural region in western part of India.
Epilepsy & behavior : E&BAbnormal gait and motor cortical processing in drug-resistant juvenile myoclonic epilepsy.
Brain and behaviorAltered Cerebro-Cerebellar Effective Connectivity in New-Onset Juvenile Myoclonic Epilepsy.
Brain sciencesSafety and Efficacy of Clonazepam in the Treatment of Juvenile Myoclonic Epilepsy: A Meta-Analysis.
Journal of pharmacy & bioallied sciencesIndividualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis.
EClinicalMedicineDevelopment and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy.
Korean journal of radiologySleep quality and circadian rhythm profile of persons with juvenile myoclonic epilepsy in a tertiary epilepsy center: A case-control study.
SeizureLet's Talk About Sex and Juvenile Myoclonic Epilepsy.
Epilepsy currentsGenetically proxied gut microbiota, gut metabolites with risk of epilepsy and the subtypes: A bi-directional Mendelian randomization study.
Frontiers in molecular neuroscienceCausal relationship among obesity and body fat distribution and epilepsy subtypes.
Frontiers in neurologyExecutive functions and personality traits of juvenile myoclonic epilepsy patients: a single-center experience of 23 cases.
Turkish journal of medical sciencesThe spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.
EpilepsiaEEG Markers of Treatment Resistance in Idiopathic Generalized Epilepsy: From Standard EEG Findings to Advanced Signal Analysis.
BiomedicinesA Case of a Seven-Year-old boy with Epilepsy with Myoclonic Absence: Importance of Seizure Semiology, Genetic Etiology, and Electroencephalogram Correlation for Timely Intervention.
Child neurology openA healthy outcome of a pregnant woman with drug-resistant juvenile myoclonic epilepsy treated with brivaracetam.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHyperperfusion in the cerebellum lobule VIIb in patients with epileptic seizures.
BMC neurologyDrug resistance in idiopathic generalized epilepsies: Evidence and concepts.
EpilepsiaIdiopathic generalized epilepsies: Analysis of 101 patients.
Medicina clinicaEfficacy of levetiracetam, lamotrigine and sodium valproate on seizure attacks and EEG disorders in patients with juvenile myoclonic epilepsy: A double blind randomized clinical trial.
Caspian journal of internal medicineAltered dynamic functional connectivity of striatal-cortical circuits in Juvenile Myoclonic Epilepsy.
SeizureUnderstanding frontal lobe function in epilepsy: Juvenile myoclonic epilepsy vs. frontal lobe epilepsy.
Epilepsy & behavior : E&BHeterogeneity of resting-state EEG features in juvenile myoclonic epilepsy and controls.
Brain communications[Optimal Use of Perampanel in the Treatment of Patients with Epilepsy Based on the Clinical Evidence and Characteristics].
Brain and nerve = Shinkei kenkyu no shinpoCharacterization of cortical activity in juvenile myoclonic epilepsy by gradient magnetic field topography.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology[Structural changes to the brain in drug-resistant juvenile myoclonic epilepsy].
Revista de neurologiaPerampanel for the treatment of patients with myoclonic seizures in clinical practice: Evidence from the PERMIT study.
SeizureDistributed source localization of epileptiform discharges in juvenile myoclonic epilepsy: Standardized low-resolution brain electromagnetic tomography (sLORETA) Study.
MedicineOmitting Hyperventilation in Electroencephalogram during the COVID-19 Pandemic May Reduce Interictal Epileptiform Discharges in Patients with Juvenile Myoclonic Epilepsy.
Brain sciencesEmotional Word Processing in Patients With Juvenile Myoclonic Epilepsy.
Frontiers in neurologyChildhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center.
International journal of pediatrics & adolescent medicineCorrelations Between Structural Brain Abnormalities, Cognition and Electroclinical Characteristics in Patients With Juvenile Myoclonic Epilepsy.
Frontiers in neurologyCan Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
Brain sciencesSchool performance and psychiatric comorbidity in juvenile absence epilepsy and juvenile myoclonic epilepsy: a Danish population-based cohort study.
Journal of neurologyTrends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020.
SeizureILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.
EpilepsiaThe Local Topological Reconfiguration in the Brain Network After Targeted Hub Dysfunction Attacks in Patients With Juvenile Myoclonic Epilepsy.
Frontiers in neuroscienceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Epilepsia mioclônica juvenil.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Epilepsia mioclônica juvenil
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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.
- Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.
- Transcriptional and neurotransmitter signatures associated with regional gray matter alterations in juvenile myoclonic epilepsy.
- Exploring Balance and Functional Mobility in Children with Juvenile Myoclonic Epilepsy, Effects of Cognitive and Motor Dual-Tasks: An Exploratory Pilot Study.
- Effects of lipid-lowering drugs on epilepsy and its subtypes: A drug-target Mendelian randomization study.
- Sleep disorders in patients with juvenile myoclonic epilepsy: A polysomnographic investigation.
- Thermodynamic rigidity of harmonic brain states relates to general mental ability in juvenile myoclonic epilepsy.
- The network neuropsychology of neighborhood deprivation in juvenile myoclonic epilepsy.
- Leukocytes Transcriptome Analysis of Genes Associated with Epilepsy Duration and Age of Onset.
- Juvenile myoclonic epilepsy heterogeneity uncovered: Z-mapped imaging endophenotypes of cortical and subcortical structures and their clinical, cognitive and psychiatric features.
- Coexistence of Mesial Temporal Sclerosis and Juvenile Myoclonic Epilepsy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:307(Orphanet)
- OMIM OMIM:254770(OMIM)
- MONDO:0009696(MONDO)
- Epilepsia(PCDT · Ministério da Saúde)
- GARD:6808(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q543517(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
