Um tipo de epilepsia caracterizado por movimentos musculares involuntários e descontrolados que acontecem de forma intermitente durante o sono. Os grupos dessas crises de movimento que ocorrem à noite são geralmente muito parecidos entre si e curtos.
Introdução
O que você precisa saber de cara
Um tipo de epilepsia caracterizado por movimentos musculares involuntários e descontrolados que acontecem de forma intermitente durante o sono. Os grupos dessas crises de movimento que ocorrem à noite são geralmente muito parecidos entre si e curtos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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.
Sodium-activated K(+) channel (PubMed:37494189). Acts as an important mediator of neuronal membrane excitability (PubMed:37494189). Contributes to the delayed outward currents (By similarity). Regulates neuronal bursting in sensory neurons (By similarity). Contributes to synaptic development and plasticity (By similarity)
Cell membrane
Developmental and epileptic encephalopathy 14
A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another.
Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensiti
Synaptic cell membraneCell membrane
Epilepsy, nocturnal frontal lobe, 1
An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.
Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensiti
Synaptic cell membraneCell membrane
Epilepsy, nocturnal frontal lobe, 3
An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.
Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensiti
Synaptic cell membraneCell membrane
Epilepsy, nocturnal frontal lobe, 4
An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking.
Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity)
CytoplasmPresynapse
Cone-rod synaptic disorder, congenital non-progressive
A non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness.
Hormone regulating the release of corticotropin from pituitary gland (By similarity). Induces NLRP6 in intestinal epithelial cells, hence may influence gut microbiota profile (By similarity)
Secreted
As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:25457612, PubMed:29590090, PubMed:29769719, PubMed:31548394, PubMed:35338845). In response to amino acid depletion, the GATOR1 complex has GTPase activating protein (GAP) activity and strongly increases GTP hydrolysis by RagA/RRAGA (or RagB/RRAGB) within heterodimeric Rag complexes, thereby turning them into their inactive GDP-bound form, releasing mTORC1
Lysosome membraneCytoplasm, cytosolCytoplasm, perinuclear region
Epilepsy, familial focal, with variable foci 1
An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete.
Variantes genéticas (ClinVar)
872 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 153 variantes classificadas pelo 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 noturna do lobo frontal autossômica dominante
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.
NPRL3 (nitrogen permease regulator-like 3) variants are associated with focal epilepsy syndromes, including sleep-related hypermotor epilepsy (SHE) and familial focal epilepsy with variable foci (FFEVF), with or without focal cortical dysplasia (FCD). The NPRL3 gene encodes a protein that forms the GATOR1 complex, which regulates the mTOR signaling pathway.To characterize the epilepsy phenotype associated with NPRL3, assess treatment strategies, and evaluate patient prognosis.We conducted a multicenter, retrospective study using an online questionnaire to collect clinical data on seizure onset, crisis-like seizure exacerbations, MRI findings, neuropsychological assessment, treatment, and genetic variants. Variants were classified per ACMG guidelines. The study was part of the Network for Therapy in Rare Epilepsies (NETRE).Data from 37 patients with NPRL3-associated epilepsy were analyzed. Mean age at seizure onset was 3.7 years (median with interquartile range [IQR] 1.3-4.9). Over 1 to 45 years of follow-up (mean 13.6, IQR 5.4-18), 21/37 (57%) experienced crisis-like seizure exacerbations. MRI abnormalities were present in 10/36 (28%) cases: 8 FCD, 1 hippocampal sclerosis, and 1 hippocampal asymmetry. Persistent focal epileptiform discharges were present on serial EEGs in 20/37 patients (54%). Highest drug response rates were seen with lacosamide, followed by clobazam, carbamazepine/oxcarbazepine, and lamotrigine. Epilepsy surgery (n = 8) led to seizure freedom in four and significant reduction in one case.Crisis-like seizure exacerbations were common in NPRL3-associated epilepsy. Sodium channel blockers showed notable efficacy. Epilepsy surgery was beneficial even in MRI-negative cases. No distinct genotype-phenotype correlation was identified.
Unstable slow oscillations couple with epileptogenic fast-rhythm bistability in sleep-related epilepsy: A stereoelectroencephalographic study.
Although slow waves in δ (.5-4 Hz) characterize non-rapid eye movement (NREM) sleep, in patients with sleep-related epilepsy, seizures most frequently emerge during NREM stage 2, known to be promoted by δ-band instability. Meanwhile, the epileptogenic zone (EZ) shows localized bistability in β-γ-band (15-200 Hz) neuronal oscillations, indicating a catastrophic shift toward seizure. We aim to clarify the mechanistic link between δ-band synchrony and β-γ-band bistability in epilepsy. We studied a cohort of 14 patients with sleep hypermotor epilepsy (22.3 ± 10.8 years old, seven males). Seven- to 9-h stereoelectroencephalographic sleep recordings were segmented into 10-min uninterrupted, interictal N2 and N3 epochs, and phase synchrony, phase-amplitude coupling (PAC), and bistability were assessed. Canonical correlation was examined to answer whether PAC links δ phase to β-γ bistability. Compared to non-EZ, the EZ exhibited larger 15-200-Hz bistability along with stronger 2-8-Hz and 15-100-Hz synchrony throughout N2 and N3. Compared to N3, N2 showed stronger PAC between 2-30-Hz phases in the non-EZ and 5-150-Hz amplitudes in the EZ. Canonical correlations between δ phase modulated PAC, and both bistability and synchrony were identified during N2 (r = .86 and .82) and N3 (r = .84 and .80), with the strongest contributors being 2-4-Hz synchrony and bistability in 2-4-Hz and 15-200-Hz bands. Correlations between interictal spikes and canonical covariates of bistability and PAC (r2 = .62 for N2 and .56 for N3) validated their relevance to epileptogenicity. δ-Band synchrony and β-γ-band bistability are not isolated epileptogenic mechanisms but likely act synergistically, playing a pivotal role in seizure generation through the coupling of δ phases and β-γ amplitudes across large networks, with significant contributions from nonepileptogenic tissues.
Automated video-based differentiation of sleep-related hypermotor epilepsy and parasomnia episodes.
Distinguishing epileptic seizures from parasomnias is challenging due to overlapping motor features. This study evaluated a SlowFast deep learning model using video recordings of 167 individuals to classify Sleep-Related Hypermotor Epilepsy, Disorders of Arousal, and REM Sleep Behavior Disorder. The model achieved a mean accuracy of 83.3% across three data splits. This work represents an initial step toward developing automated tools to support clinicians in assessing sleep-related motor events.
Nicotine as target-therapy in Sleep-Related Hypermotor Epilepsy due to nAChR genes mutation: case report and systematic review of literature.
Ten to fifteen per cent of Sleep-Related-Hypermotor-Epilepsy (SHE) has genetic origin, mainly related to pathogenic variants of genes coding for nicotinic cholinergic receptor (nAChR) system. We reported a subject with SHE due to CHRNA4 mutation, successfully treated with Nicotine. We also provided a systematic review on the use of Nicotine as an anti-seizure-medication and sleep regulator in SHE due to nAChR genes mutation. We conducted a comprehensive search on PubMed/MEDLINE, SCOPUS and EMBASE in accordance with PRISMA guidelines, using the keywords: "epilepsy" and "Nicotine". We included studies with at least one subject with SHE due to nAChR genes mutation treated with Nicotine (tobacco, snuff or patch). The aim was to evaluate the effectiveness and safety of Nicotine medication. Our patient benefited from treatment with nicotine patches, reporting reduction in seizure frequency and improved sleep quality as confirmed by polysomnographic and actigraphic monitoring. In our systematic review we identified 31 patients with nAChR-related-SHE treated with Nicotine. Seventy-nine percent of subjects had drug-resistant epilepsy when Nicotine trial was started. Ninety-four percent of subjects achieved a significant decrease in seizure frequency and 47 % of patients reached a seizure freedom condition. In no patient the seizure frequency increased. Side effects occurred in 23 % of patch-treated subjects; in 14 %, they were not controlled by dose reduction. The most frequently used patch dosage and the one with the lowest incidence of side effects was 7mg/24 h. Nicotine patch seems effective and relatively safe in patients with SHE due to nAChR gene mutation. Randomized case-control studies are needed to better assess its therapeutic role.
Novel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review.
Sleep-related hypermotor epilepsy (SHE) is a rare epileptic syndrome characterized by nocturnal seizures that predominantly arise during sleep, featuring complex motor behaviors. Pathogenic variants in the nitrogen permease regulator-like 3 (NPRL3) gene and other regulators of the mTOR pathway have been linked to diverse epilepsy phenotypes, including SHE. SHE is challenging to diagnose due to its diverse presentations, overlap with non-epileptic sleep disorders, and semiological similarities to functional/dissociative seizures (FDS). We present the case of a 61-year-old woman with a lifelong history of nocturnal paroxysmal events and focal epilepsy. She experienced stereotyped nocturnal episodes of focal motor seizures with retained consciousness, characterized by hyperkinetic activity and asymmetric posturing. Despite multiple antiseizure medications (ASMs), only carbamazepine (CBZ) provided long-term seizure freedom. Genetic testing revealed a novel heterozygous mutation in the NPRL3 gene. This case highlights the diagnostic challenges of SHE and the importance of genetic testing in drug-resistant epilepsy. The identified NPRL3 mutation shows the genetic complexity of SHE and its implications for treatment.
Publicações recentes
Disorders of Arousal and Sleep-Related Hypermotor Epilepsy in adults: a challenging but necessary and critical distinctive diagnosis.
Unstable slow oscillations couple with epileptogenic fast-rhythm bistability in sleep-related epilepsy: A stereoelectroencephalographic study.
Novel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review.
Automated video-based differentiation of sleep-related hypermotor epilepsy and parasomnia episodes.
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.
📚 EuropePMC81 artigos no totalmostrando 141
Unstable slow oscillations couple with epileptogenic fast-rhythm bistability in sleep-related epilepsy: A stereoelectroencephalographic study.
EpilepsiaNovel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review.
Frontiers in neuroscienceAutomated video-based differentiation of sleep-related hypermotor epilepsy and parasomnia episodes.
NPJ digital medicineCrisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.
NeuropediatricsNicotine as target-therapy in Sleep-Related Hypermotor Epilepsy due to nAChR genes mutation: case report and systematic review of literature.
Sleep medicineEmerging Role of Tripartite Synaptic Transmission in the Pathomechanism of Autosomal-Dominant Sleep-Related Hypermotor Epilepsy.
International journal of molecular sciencesClinical and EEG characteristics of sleep-related hypermotor epilepsy in children.
Epilepsy researchIdentification of New KCNT1-Epilepsy Drugs by In Silico, Cell, and Drosophila Modeling.
Annals of neurologyWhen sleep turns violent: coexisting sleep-related hypermotor epilepsy and somnambulism documented by polysomnography.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyReliability and diagnostic accuracy of home video recording in differentiating sleep-related hypermotor epilepsy from disorders of arousal.
EpilepsiaThe role of genetic testing in evaluating surgical outcomes for pediatric focal cortical dysplasia associated with NPRL3 variant.
Epilepsy & behavior reportsNovel ADGRV1 pathogenic variant associated to sleep-related hypermotor epilepsy.
Epileptic disorders : international epilepsy journal with videotapeDisorders of arousal and sleep-related hypermotor epilepsy are interrelated. Some new viewpoints.
SeizureSleep-related epilepsy through the lens of stereo-EEG: Clinical and research update.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologySubcortical Circuits Among Pedunculopontine Nucleus, Thalamus and Basal Ganglia Play Important Roles in Paroxysmal Arousal in Genetic Rat Models of Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
International journal of molecular sciencesTheta bursts in patients with sleep-related hypermotor epilepsy: potential marker of impaired inhibitory control and its mitigation through musical stimulation.
Cerebral cortex (New York, N.Y. : 1991)Rapid eye movement sleep without atonia in patients with sleep-related fronto-temporal epilepsy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPearls & Oy-sters: ADCY5-Related Dyskinesia: From a Longstanding Misdiagnosis of Drug-Resistant Epilepsy.
NeurologyInsights from stereoelectroencephalography in KCNT1-related focal epilepsy suggest a multifocal and migrating epileptogenic network.
EpilepsiaSleep-related hypermotor epilepsy in a patient with myelin-oligodendrocyte-glycoprotein antibody disease.
BMJ case reportsTonic-clonic seizures induce hypersomnia and suppress rapid eye movement sleep in mouse models of epilepsy.
Sleep advances : a journal of the Sleep Research SocietySleep-related hypermotor epilepsy-No longer controversial.
EpilepsiaDurable suppression of seizures in a preclinical model of KCNT1 genetic epilepsy with divalent small interfering RNA.
EpilepsiaBrain changes in sleep-related hypermotor epilepsy observed from wakefulness and N2 sleep: A matched case-control study.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyPAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.
Epilepsia openSleep-related hypermotor seizures originating from the occipital lobe.
Epileptic disorders : international epilepsy journal with videotapePearls & Oy-sters: Exquisite Response of Sleep-Related Hypermotor Epilepsy to a Nicotine Patch.
NeurologyEfficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review.
Epilepsia openNocturnal paroxysmal dystonia to sleep-related hypermotor epilepsy: A critical review.
EpilepsiaNonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy.
Epilepsy & behavior reportsPathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.
Frontiers in neurologyCase report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
Frontiers in cellular neuroscienceEpileptic seizure or parasomnia? From knowledge to recognition. Sleep-related hypermotor epilepsy.
Anales de pediatriaMice harboring the T316N variant in the GABAAR γ2 subunit exhibit sleep-related hypermotor epilepsy phenotypes and hypersynchronization in the thalamocortical pathway.
Experimental neurologyIctal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy: A Study of 200 Patients.
Journal of clinical medicine[Recent studies about the underlying cerebral mechanism of the fearfull arousals from slow wave sleep].
Psychiatria Hungarica : A Magyar Pszichiatriai Tarsasag tudomanyos folyoirataAge-Dependent Activation of Purinergic Transmission Contributes to the Development of Epileptogenesis in ADSHE Model Rats.
Biomolecules[Hitting and yelling during sleep: diagnosis and implications of REM sleep behavior disorder].
Nederlands tijdschrift voor geneeskundeAge-Dependent Activation of Pannexin1 Function Contributes to the Development of Epileptogenesis in Autosomal Dominant Sleep-related Hypermotor Epilepsy Model Rats.
International journal of molecular sciencesFearful arousals in sleep terrors and sleep-related hypermotor epileptic seizures may involve the salience network and the acute stress response of Cannon and Selye.
Epilepsy & behavior reportsImaging biomarkers of sleep-related hypermotor epilepsy and sudden unexpected death in epilepsy: a review.
SeizureCase report: A young man with non-rapid eye movement parasomnias in a KCNT1-related epilepsy family.
Frontiers in neurologyPhenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.
Epilepsia openClinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review.
SeizureTwo novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay.
Psychiatric geneticsNicotinic Acetylcholine Receptor Dysfunction in Addiction and in Some Neurodegenerative and Neuropsychiatric Diseases.
CellsRefining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Epilepsia openProgressive structural damage in sleep-related hypermotor epilepsy.
Journal of neuroscience researchAutomatic video analysis and classification of sleep-related hypermotor seizures and disorders of arousal.
EpilepsiaClinical phenotypic and genotypic characterization of NPRL3-related epilepsy.
Frontiers in neurologyEpilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature.
SeizureNicotinic acetylcholine receptors and epilepsy.
Pharmacological researchNeuropsychological and Behavioral Profile in Sleep-Related Hypermotor Epilepsy (SHE) and Disorders of Arousal (DOA): A Multimodal Analysis.
Journal of clinical medicineViolent and Complex Behaviors and Non-Restorative Sleep Are the Main Features of Disorders of Arousal in Adulthood: Real Picture or a More Severe Phenotype?
Journal of clinical medicineInterictal and subclinical ictal discharges emerging from tonic REM sleep in sleep-related hypermotor epilepsy.
Sleep medicineAbnormal brain functional network dynamics in sleep-related hypermotor epilepsy.
CNS neuroscience & therapeuticsApproaches for the discovery of drugs that target K Na 1.1 channels in KCNT1-associated epilepsy.
Expert opinion on drug discoveryWhat respiratory physicians should know about parasomnias.
Breathe (Sheffield, England)Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark.
Molecular genetics and metabolism reportsExome Sequencing in an ADSHE Family: VUS Identification and Limits.
International journal of environmental research and public healthAutosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1.
Translational neurosciencePsychogenic non-epileptic seizures arising almost exclusively from sleep.
SeizureThe β2V287L nicotinic subunit linked to sleep-related epilepsy differently affects fast-spiking and regular spiking somatostatin-expressing neurons in murine prefrontal cortex.
Progress in neurobiologyRare variants in GABRG2 associated with sleep-related hypermotor epilepsy.
Journal of neurologyGenetic Epilepsy Syndromes.
Continuum (Minneapolis, Minn.)KNa1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons.
Neurobiology of diseaseHigh frequency oscillations play important roles in development of epileptogenesis/ictogenesis via activation of astroglial signallings.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieSleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.
Journal of central nervous system diseaseAutosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant.
European journal of medical geneticsDisorders of arousal and sleep-related hypermotor epilepsy - overview and challenges night is a battlefield of sleep and arousal promoting forces.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologySleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III.
Sleep science (Sao Paulo, Brazil)Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review.
Frontiers in neurologySleep-Related Hypermotor Epilepsy: Etiology, Electro-Clinical Features, and Therapeutic Strategies.
Nature and science of sleepPrecision treatment with nicotine in autosomal dominant sleep-related hypermotor epilepsy (ADSHE): An observational study of clinical outcome and serum cotinine levels in 17 patients.
Epilepsy researchA 16-Year-Old Male With Frequent Nocturnal Events During Slow Wave Sleep on a Polysomnogram.
CureusThe phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
Journal of neurologyNicotine Patch Improved Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
Pediatric neurologySeizure worsening in pregnancy in women with sleep-related hypermotor epilepsy (SHE): A historical cohort study.
SeizureREM sleep behavior disorder: Mimics and variants.
Sleep medicine reviewsGastroesophageal reflux-related Non-Rapid Eye Movement parasomnia mimicking sleep-related hypermotor epilepsy.
Sleep medicineMetabolic alterations of the dorsolateral prefrontal cortex in sleep-related hypermotor epilepsy: A proton magnetic resonance spectroscopy study.
Journal of neuroscience researchKCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain : a journal of neurologySleep and Epilepsy, Clinical Spectrum and Updated Review.
Sleep medicine clinicsTreatment of pharmacoresistant sleep-related hypermotor epilepsy (SHE) with the selective AMPA receptor antagonist perampanel.
Sleep medicineSleep-related hypermotor epilepsy and non-rapid eye movement parasomnias: Differences in the periodic and aperiodic component of the electroencephalographic power spectra.
Journal of sleep researchCan rodent models elucidate the pathomechanisms of genetic epilepsy?
British journal of pharmacologySleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.
PloS oneThe Arousal Disorders Questionnaire: a new and effective screening tool for confusional arousals, Sleepwalking and Sleep Terrors in epilepsy and sleep disorders units.
Sleep medicineTSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis.
NeuropediatricsBidirectional relationships of sleep and epilepsy in adults with epilepsy.
Epilepsy & behavior : E&BSleep-Related Hypermotor Epilepsy vs Disorders of Arousal in Adults: A Step-Wise Approach to Diagnosis.
ChestCommonalities and Differences in NREM Parasomnias and Sleep-Related Epilepsy: Is There a Continuum Between the Two Conditions?
Frontiers in neurologyUtility of the Frontal Lobe Epilepsy Parasomnia Scale in Evaluation of Children With Nocturnal Events.
The Journal of neuroscience nursing : journal of the American Association of Neuroscience NursesNicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.
Journal of child neurologyNicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.
Brain sciencesAbnormal blood oxygen level-dependent fluctuations and remote connectivity in sleep-related hypermotor epilepsy.
Acta neurologica ScandinavicaAge-Dependent and Sleep/Seizure-Induced Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
International journal of molecular sciencesUtilising Automated Electrophysiological Platforms in Epilepsy Research.
Methods in molecular biology (Clifton, N.J.)[Advances in sleep-related hypermotor epilepsy].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesStandard procedures for the diagnostic pathway of sleep-related epilepsies and comorbid sleep disorders: A European Academy of Neurology, European Sleep Research Society and International League against Epilepsy-Europe consensus review.
Journal of sleep researchSeizures with paroxysmal arousals in sleep-related hypermotor epilepsy (SHE): Dissecting epilepsy from NREM parasomnias.
EpilepsiaParasomnias, sleep-related movement disorders and physiological sleep variants in focal epilepsy: A polysomnographic study.
SeizureThe potential role of micro-RNA-211 in the pathogenesis of sleep-related hypermotor epilepsy.
Medical hypothesesVariants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesUpregulated and Hyperactivated Thalamic Connexin 43 Plays Important Roles in Pathomechanisms of Cognitive Impairment and Seizure of Autosomal Dominant Sleep-Related Hypermotor Epilepsy with S284L-Mutant α4 Subunit of Nicotinic ACh Receptor.
Pharmaceuticals (Basel, Switzerland)Upregulated Connexin 43 Induced by Loss-of-Functional S284L-Mutant α4 Subunit of Nicotinic ACh Receptor Contributes to Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
Pharmaceuticals (Basel, Switzerland)Pathomechanism of nocturnal paroxysmal dystonia in autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieRemarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy.
Epilepsy & behavior : E&BTwo mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy.
Epileptic disorders : international epilepsy journal with videotapeTherapy in Sleep-Related Hypermotor Epilepsy (SHE).
Current treatment options in neurologyPathogenesis and pathophysiology of autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.
British journal of pharmacologySleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients.
SeizureSleep-related hypermotor epilepsy: A prediction cohort study on sleep/awake patterns of seizures.
EpilepsiaPolysomnographic features differentiating disorder of arousals from sleep-related hypermotor epilepsy.
SleepInsights into sleep-related hyper-motor epilepsy: an Egyptian case series.
Neurological researchMigrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.
SeizureClinical features of sleep-related hypermotor epilepsy in relation to the seizure-onset zone: A review of 135 surgically treated cases.
EpilepsiaMild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.
Annals of clinical and translational neurologyCHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation.
Frontiers in molecular neuroscienceSleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.
Epileptic disorders : international epilepsy journal with videotapeSleep-related hypermotor epilepsy: prevalence, impact and management strategies.
Nature and science of sleepSleep Related Epilepsy and Pharmacotherapy: An Insight.
Frontiers in pharmacologySeizure duration and latency of hypermotor manifestations distinguish frontal from extrafrontal onset in sleep-related hypermotor epilepsy.
EpilepsiaProfile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy.
Sleep medicineSleep-related motor and behavioral disorders: Recent advances and new entities.
Movement disorders : official journal of the Movement Disorder SocietyBrain functional connectivity in sleep-related hypermotor epilepsy.
NeuroImage. ClinicalA case series of lacosamide as adjunctive therapy in refractory sleep-related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy).
Journal of sleep researchAcquired Sleep-Related Hypermotor Epilepsy with Disrupted White Matter Tracts Assessed by Multishell Diffusion Magnetic Resonance Imaging.
Frontiers in neurologyObstructive Sleep Apnea Presenting as Non-epileptic Spells: A Unique Combination.
CureusSporadic Nocturnal Frontal Lobe Epilepsy--Report on Two Cases and Review of the First Taiwanese Series of 10 Cases.
Acta neurologica TaiwanicaSleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome.
Acta neurologica BelgicaActigraphy: a useful tool to monitor sleep-related hypermotor seizures.
Sleep medicineSleep-related hypermotor epilepsy activated by rapid eye movement sleep.
Epileptic disorders : international epilepsy journal with videotapeA stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation.
SeizureProton MR Spectroscopy in Patients With Sleep-Related Hypermotor Epilepsy (SHE): Evidence of Altered Cingulate Cortex Metabolism.
SleepWhen sleep-related hypermotor epilepsy (SHE) met Charles Darwin and Francis Galton.
NeurologyPrevalence of Sleep-Related Hypermotor Epilepsy-Formerly Named Nocturnal Frontal Lobe Epilepsy-in the Adult Population of the Emilia-Romagna Region, Italy.
SleepFrom nocturnal frontal lobe epilepsy to Sleep-Related Hypermotor Epilepsy: A 35-year diagnostic challenge.
SeizureIncidence of sudden unexpected death in epilepsy in sleep-related hypermotor epilepsy, formerly named nocturnal frontal lobe epilepsy.
Sleep medicineSleep-related hypermotor epilepsy: Long-term outcome in a large cohort.
NeurologyDefinition and diagnostic criteria of sleep-related hypermotor epilepsy.
NeurologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.
- Unstable slow oscillations couple with epileptogenic fast-rhythm bistability in sleep-related epilepsy: A stereoelectroencephalographic study.
- Automated video-based differentiation of sleep-related hypermotor epilepsy and parasomnia episodes.
- Nicotine as target-therapy in Sleep-Related Hypermotor Epilepsy due to nAChR genes mutation: case report and systematic review of literature.
- Novel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review.
- Disorders of Arousal and Sleep-Related Hypermotor Epilepsy in adults: a challenging but necessary and critical distinctive diagnosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98784(Orphanet)
- MONDO:0000030(MONDO)
- Epilepsia(PCDT · Ministério da Saúde)
- GARD:11918(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3589157(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