juvenile myoclonic epilepsy

adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years

DBpedia resource is: http://dbpedia.org/resource/Juvenile_myoclonic_epilepsy

Abstract is: Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common form of genetic generalized epilepsy (previously known as idiopathic generalized epilepsy), representing 5-10% of all epilepsy cases. This disorder typically first presents between the ages of 12 and 18 with myoclonic seizure manifesting as sudden brief involuntary single or multiple episodes of muscle(s) contractions caused by an abnormal excessive or synchronous neuronal activity in the brain. These events typically occur after awakening from sleep, during the evening or upon sleep deprivation. JME is also characterized by generalized tonic-clonic seizures and a minority also have absence seizures. The genetics of JME are complex and rapidly evolving as over 20 chromosomal loci and multiple genes have been identified thus far. Given the genetic and clinical heterogeneity of JME some authors have suggested that it should be thought of as a spectrum disorder.

juvenile myoclonic epilepsy is …
instance of (P31):
class of diseaseQ112193867

sublass of (P279):
Idiopathic generalized epilepsyQ5988876
myoclonic epilepsyQ11883686
adolescence-adult electroclinical syndromeQ18553415

External links are
P699Disease Ontology IDDOID:4890
P557DiseasesDB32202
P673eMedicine ID1185061
P2888exact matchhttp://identifiers.org/doid/DOID:4890
http://purl.obolibrary.org/obo/DOID_4890
P646Freebase ID/m/0h4vn7
P4317GARD rare disease ID6808
P7464Genetics Home Reference Conditions IDjuvenile-myoclonic-epilepsy
P3827JSTOR topic ID (archived)juvenile-myoclonic-epilepsy
P665KEGG IDH02217
P486MeSH descriptor IDD020190
P672MeSH tree codeC10.228.140.490.375.130.670
C10.228.140.490.493.063.670
P6366Microsoft Academic ID2779814861
P1748NCI Thesaurus IDC84796
P492OMIM ID254770
254770
P10283OpenAlex IDC2779814861
P1550Orphanet ID307
P3417Quora topic IDJuvenile-Myoclonic-Epilepsy
P2892UMLS CUIC0270853
P11143WikiProjectMed IDJuvenile myoclonic epilepsy

P6532has phenotypemyoclonusQ116275
P1995health specialtyneurologyQ83042
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686
P1193prevalence0.0004

Reverse relations

subclass of (P279)
Q102296637juvenile myoclonic epilepsy 10
Q102295740juvenile myoclonic epilepsy 3
Q102296301juvenile myoclonic epilepsy 4
Q102293305juvenile myoclonic epilepsy 9

established from medical condition (P5166)
Q54846311GM13078
Q54846723GM13695
Q54846946GM13955
Q54846947GM13956
Q123031822HPS1514
Q123031823HPS1515
Q123031824HPS1516
Q123031825HPS1517
Q123031826HPS1518
Q123031827HPS1519

main subject (P921)
Q57309657A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy
Q43688794A clinical and electroencephalographic study of juvenile myoclonic epilepsy: its pathophysiological considerations based on the findings obtained from neuropsychological EEG activation
Q67512379A controlled social and psychological investigation of patients with juvenile myoclonic epilepsy
Q48199147A locus for juvenile myoclonic epilepsy maps to 2q33-q36.
Q30662597A meta-analysis of voxel-based morphometry studies on gray matter volume alteration in juvenile myoclonic epilepsy
Q87909027A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures
Q34099192A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein
Q80152328A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14
Q73089727A special kind of anterior horn cell involvement in juvenile myoclonic epilepsy demonstrated by macro electromyography
Q71031697A study of the association between Japanese juvenile myoclonic epilepsy patients and HLA class II antigens
Q59600658Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI
Q92308762Abnormal hippocampal structure and function in juvenile myoclonic epilepsy and unaffected siblings
Q85660169Abnormal motor cortex plasticity in juvenile myoclonic epilepsy
Q87952352Abnormal response to photic stimulation in juvenile myoclonic epilepsy: an EEG-fMRI study
Q47568787Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs.
Q79314227Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India
Q41835514Absences in juvenile myoclonic epilepsy: a clinical and video-electroencephalographic study
Q92610410Alteration of cerebello-thalamocortical spontaneous low-frequency oscillations in juvenile myoclonic epilepsy
Q60681504Alterations in pain responsiveness and serum biomarkers in juvenile myoclonic epilepsy: an age- and gender-matched controlled pilot study
Q36448488Altered Local Spontaneous Brain Activity in Juvenile Myoclonic Epilepsy: A Preliminary Resting-State fMRI Study
Q55284234Altered Structural and Functional Connectivity of Juvenile Myoclonic Epilepsy: An fMRI Study.
Q99575962Altered dynamic effective connectivity of the default mode network in newly diagnosed drug-naïve juvenile myoclonic epilepsy
Q35948522Altered microstructural connectivity in juvenile myoclonic epilepsy: the missing link
Q71290244Analysis of a human brain voltage-gated potassium channel gene, KCNA6 (HBK2), in patients with juvenile myoclonic epilepsy
Q80726619Analysis of background EEG activity in patients with juvenile myoclonic epilepsy
Q71889337Anterior horn cells might be subclinically affected in juvenile myoclonic epilepsy (JME)
Q58085839Antiepileptic drug withdrawal in juvenile myoclonic epilepsy
Q46033338Are personality traits of juvenile myoclonic epilepsy related to frontal lobe dysfunctions? A proton MRS study.
Q71512908Association of HLA class II alleles in patients with juvenile myoclonic epilepsy compared with patients with other forms of adolescent-onset generalized epilepsy
Q46728551Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study
Q87905119Association of the GRM4 gene variants with juvenile myoclonic epilepsy in an Indian population
Q24675229Association of the connexin36 gene with juvenile myoclonic epilepsy
Q86986705Auditory startle response is normal in juvenile myoclonic epilepsy
Q100447583Automated Detection of Juvenile Myoclonic Epilepsy using CNN based Transfer Learning in Diffusion MRI
Q35929810Autosomal dominant juvenile myoclonic epilepsy and GABRA1.
Q83008202Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy
Q64104606BOLD-fMRI activity informed by network variation of scalp EEG in juvenile myoclonic epilepsy
Q24532132BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy
Q41315653Behavioral and Movement Disorders due to Long-Lasting Myoclonic Status Epilepticus Misdiagnosed as ADHD in a Patient With Juvenile Myoclonic Epilepsy: Electroclinical Findings and Related Hemodynamic Changes
Q70362129Benign juvenile myoclonic epilepsy
Q63402070Biology of Juvenile Myoclonic Epilepsy
Q48189934Brain morphology in juvenile myoclonic epilepsy and absence seizures
Q48247353CBF changes in drug naive juvenile myoclonic epilepsy patients
Q79216055Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy
Q33732406Carbamazepine in the treatment of generalised tonic clonic seizures in juvenile myoclonic epilepsy
Q104507705Case Report: Four Cases of Panayiotopoulos Syndrome Evolving to Juvenile Myoclonic Epilepsy
Q46141701Case of juvenile myoclonic epilepsy misdiagnosed as simple partial seizure for more than 60 years
Q55396526Changes in Dynamics Within and Between Resting-State Subnetworks in Juvenile Myoclonic Epilepsy Occur at Multiple Frequency Bands.
Q83888938Channelopathies and juvenile myoclonic epilepsy
Q40742729Characterization of intractable juvenile myoclonic epilepsy: new perspectives on primarily generalized seizures
Q38289666Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand
Q80917186Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features
Q36706639Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.
Q28329662Chronic acetazolamide monotherapy in the treatment of juvenile myoclonic epilepsy
Q41548911Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy.
Q33935063Classification of juvenile myoclonic epilepsy data acquired through scanning electromyography with machine learning algorithms.
Q30388636Clinical Evaluation of 38 Patients with Juvenile Myoclonic Epilepsy
Q72361128Clinical and EEG asymmetries in juvenile myoclonic epilepsy
Q73106994Clinical and EEG asymmetries in juvenile myoclonic epilepsy (JME)
Q82634205Clinical and electroencephalographic study of first-degree relatives and probands with juvenile myoclonic epilepsy
Q47633592Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands
Q44140763Clinical expression and EEG features of patients with juvenile myoclonic epilepsy (JME) from North India
Q92551433Clinical features and treatment outcomes of Juvenile myoclonic epilepsy patients
Q73568759Clinical features, EEG findings and diagnostic pitfalls in juvenile myoclonic epilepsy: a series of 63 patients
Q87535863Clinical genetic study in juvenile myoclonic epilepsy
Q87262983Clinical heterogeneity of juvenile myoclonic epilepsy: follow-up after an interval of more than 20 years
Q48488077Clinical observations of juvenile myoclonic epilepsy in 131 patients: a study in South India
Q38177883Clinical predictors of the long-term social outcome and quality of life in juvenile myoclonic epilepsy: 20-65 years of follow-up
Q90369472Cognitive functioning in new-onset juvenile myoclonic epilepsy
Q37203286Cognitive impairment in juvenile myoclonic epilepsy
Q47842991Cognitive performance in juvenile myoclonic epilepsy patients with specific endophenotypes
Q92840537Colour vision in juvenile myoclonic epilepsy
Q80345912Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy
Q92803700Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy
Q47780728Comparing sleep profiles between patients with juvenile myoclonic epilepsy and symptomatic partial epilepsy: Sleep questionnaire-based study
Q79801668Comparison of valporic acid efficacy in familial versus sporadic cases of juvenile myoclonic epilepsy
Q39782946Complex discharge-affecting networks in juvenile myoclonic epilepsy: A simultaneous EEG-fMRI study
Q35121903Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy
Q38220460Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy
Q43866407Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.
Q59600505Connectivity of the supplementary motor area in juvenile myoclonic epilepsy and frontal lobe epilepsy
Q80567661Cortical thickness abnormality in juvenile myoclonic epilepsy
Q56781160Corticospinal excitability in juvenile myoclonic epilepsy: The story so far
Q88244914DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians
Q24514943Delayed diagnosis of juvenile myoclonic epilepsy
Q58833699Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome
Q41034643Delineating behavioral and cognitive phenotypes in juvenile myoclonic epilepsy: Are we missing the forest for the trees?
Q92009910Developmental decrease in parvalbumin-positive neurons precedes increase in flurothyl-induced seizure susceptibility in the Brd2+/- mouse model of juvenile myoclonic epilepsy
Q67885405Diagnosing juvenile myoclonic epilepsy
Q71987056Diagnosing juvenile myoclonic epilepsy in an elderly patient
Q36383785Differential improvement of the sleep quality among patients with juvenile myoclonic epilepsy with valproic acid: A longitudinal sleep questionnaire-based study
Q39163904Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies
Q91072278Dissociation between decision making under ambiguity and risk in patients with juvenile myoclonic epilepsy
Q60440850Distinct domains of impulsivity are impaired in juvenile myoclonic epilepsy but not in temporal lobe epilepsy
Q90265051Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy
Q89877877Dysfunctional personality beliefs and executive performance in patients with juvenile myoclonic epilepsy
Q54129995EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.
Q46320813EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
Q34545261EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.
Q64094566EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling
Q74351530Early and late intracortical inhibition in juvenile myoclonic epilepsy
Q47890820Effect of valproate on the sleep microstructure of juvenile myoclonic epilepsy patients - a cross-sectional CAP based study
Q37660972Effects of lamotrigine monotherapy in patients with newly diagnosed juvenile myoclonic epilepsy: An open-label study
Q36226208Effects of sleep deprivation on cortical excitability in patients affected by juvenile myoclonic epilepsy: a combined transcranial magnetic stimulation and EEG study.
Q87202393Efficacy and tolerability of lamotrigine in juvenile myoclonic epilepsy in adults: a prospective, unblinded randomized controlled trial
Q48586585Electroclinical aspects and therapy of Han patients with juvenile myoclonic epilepsy in northern China
Q77684054Electroencephalogram and clinical focalities in juvenile myoclonic epilepsy
Q38283089Epidemiology and clinical manifestations of juvenile myoclonic epilepsy (JME) in Iran
Q56519770Epilepsy with impulsive petit mal (Juvenile Myoclonic Epilepsy)
Q99608985Evaluating Executive Functions in Patients with Juvenile Myoclonic Epilepsy Using Frontal Assessment Battery
Q37735574Evaluation of Glutamic Acid Decarboxylase Antibody Levels in Patients with Juvenile Myoclonic Epilepsy and Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
Q57990902Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14
Q33858889Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14.
Q91591016Evaluation of genomic methylation indices in juvenile myoclonic epilepsy
Q44017821Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.
Q48486254Evidence that juvenile myoclonic epilepsy is a disorder of frontotemporal corticothalamic networks
Q48848720Evolution of childhood absence epilepsy, juvenile myoclonic epilepsy and epilepsy with grand mal on awakening
Q43793924Evolution of juvenile myoclonic epilepsy treated from the outset with sodium valproate
Q80458648Evolving antiepileptic drug treatment in juvenile myoclonic epilepsy
Q73289038Exacerbation of juvenile myoclonic epilepsy with lamotrigine
Q43619542Exacerbation of juvenile myoclonic epilepsy with lamotrigine
Q34479681Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
Q87645608Expression of praxis induction on cortical excitability in juvenile myoclonic epilepsy
Q30983111Extrafrontal structural changes in juvenile myoclonic epilepsy: a topographic analysis of combined structural and microstructural brain imaging
Q49136346Eye closure sensitivity in juvenile myoclonic epilepsy and its effect on prognosis
Q48899676Eye closure sensitivity without photosensitivity in juvenile myoclonic epilepsy: polysomnographic study of electroencephalographic epileptiform discharge rates
Q73066830Factors of error involved in the diagnosis of juvenile myoclonic epilepsy: A study from South India
Q80917195Familial juvenile myoclonic epilepsy
Q48578885Focal epilepsy recruiting a generalised network of juvenile myoclonic epilepsy: a case report
Q30498019Focal structural changes and cognitive dysfunction in juvenile myoclonic epilepsy
Q48464526Frequency, causes and phenomenology of late seizure recurrence in patients with juvenile myoclonic epilepsy after a long period of remission
Q59222815Frontal cognitive dysfunction in juvenile myoclonic epilepsy
Q57123791Frontal lobe cognitive functions and electroencephalographic features in juvenile myoclonic epilepsy
Q27000713Frontal lobe function and structure in juvenile myoclonic epilepsy: a comprehensive review of neuropsychological and imaging data
Q48289392Fronto-insula network activity explains emotional dysfunctions in juvenile myoclonic epilepsy: combined evidence from pupillometry and fMRI.
Q90361779Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy
Q34074424GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors
Q37826794Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy
Q39126572Generalized epilepsy syndromes and callosal thickness: Differential effects between patients with juvenile myoclonic epilepsy and those with generalized tonic-clonic seizures alone
Q48221871Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population
Q39163899Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family
Q48650497Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.
Q33821815Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Q35929803Genetics of juvenile myoclonic epilepsy: faulty components and faulty wiring?
Q49460204Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review
Q42355550High-dose versus low-dose valproate for the treatment of juvenile myoclonic epilepsy: Going from low to high
Q90290473Higher IQ in juvenile myoclonic epilepsy: Dodging cognitive obstacles and "masking" impairments
Q83655022Hippocampal metabolic dysfunction in juvenile myoclonic epilepsy: 3D multivoxel spectroscopy study
Q34169927Hirayama disease with juvenile myoclonic epilepsy: A case report
Q33939977Homocarnosine and seizure control in juvenile myoclonic epilepsy and complex partial seizures
Q34988460Hyperconnectivity in juvenile myoclonic epilepsy: a network analysis
Q34146445Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.
Q100696714Impulsiveness, personality traits and executive functioning in patients with juvenile myoclonic epilepsy
Q48215736Interrelationship of sleep and juvenile myoclonic epilepsy (JME): a sleep questionnaire-, EEG-, and polysomnography (PSG)-based prospective case-control study
Q68446042Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy
Q72361134Is HLA-DRW13 (W6) associated with juvenile myoclonic epilepsy in Arab patients?
Q68344815Is juvenile myoclonic epilepsy an autosomal recessive disease?
Q41935602Juvenile Myoclonic Epilepsy (JME): Neuropsychological Profile and Related Factors with Cognitive Dysfunction
Q54967813Juvenile Myoclonic Epilepsy Presenting with Neurocognitive Impairment: A Case Report.
Q90219878Juvenile Myoclonic Epilepsy Shows Potential Structural White Matter Abnormalities: A TBSS Study
Q41587192Juvenile Myoclonic Epilepsy in Rural Western India: Not Yet a Benign Syndrome
Q41626203Juvenile Myoclonic Epilepsy with Frontal Executive Dysfunction is Associated with Reduced Gray Matter Volume by Voxel-based Morphometry.
Q67236402Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6
Q49979238Juvenile myoclonic epilepsy - An insider's guide
Q49016879Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study
Q89324767Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation
Q72048760Juvenile myoclonic epilepsy and human leukocyte antigens
Q42629470Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?
Q47945981Juvenile myoclonic epilepsy and narcolepsy: A series of three cases
Q47642397Juvenile myoclonic epilepsy and sleep
Q38113666Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
Q39330327Juvenile myoclonic epilepsy as a spectrum disorder: A focused review
Q90346302Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex
Q67930159Juvenile myoclonic epilepsy in Sri Lanka
Q46474898Juvenile myoclonic epilepsy in a patient with history of infantile hemiplegia
Q48686724Juvenile myoclonic epilepsy in an elderly patient
Q80516354Juvenile myoclonic epilepsy in association with nonprogressive mental subnormality
Q34390863Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations
Q70413008Juvenile myoclonic epilepsy in unexpected age groups
Q44612191Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
Q35644618Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait
Q46813872Juvenile myoclonic epilepsy masquerading as ecstasy withdrawal.
Q48468356Juvenile myoclonic epilepsy may be a disorder of cortex rather than thalamus: An effective connectivity analysis
Q93017924Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation
Q87433951Juvenile myoclonic epilepsy mimicking focal epilepsy
Q55062558Juvenile myoclonic epilepsy of Janz.
Q43451477Juvenile myoclonic epilepsy of Janz: clinical observations in 60 patients
Q92332534Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease
Q35522785Juvenile myoclonic epilepsy presenting as a new daily persistent-like headache
Q88227140Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center
Q93230959Juvenile myoclonic epilepsy shows increased posterior theta, and reduced sensorimotor beta resting connectivity
Q46989550Juvenile myoclonic epilepsy starting in the eighth decade.
Q48625878Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up
Q46922657Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study
Q33878817Juvenile myoclonic epilepsy with multiple sclerosis: is there a dual role for valproate?
Q51618616Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?
Q43253346Juvenile myoclonic epilepsy with recurrent myoclonic status: efficacy of valproate
Q38531692Juvenile myoclonic epilepsy: A system disorder of the brain
Q46132587Juvenile myoclonic epilepsy: Authors' reply.
Q38963782Juvenile myoclonic epilepsy: Challenges on its 60th anniversary
Q39341487Juvenile myoclonic epilepsy: Clinical characteristics, standard and quantitative electroencephalography analyses
Q41811284Juvenile myoclonic epilepsy: EFHC1 at the cross-roads?
Q48161948Juvenile myoclonic epilepsy: a 5-year prospective study
Q51904231Juvenile myoclonic epilepsy: a benign disorder? Personality traits and psychiatric symptoms.
Q48686097Juvenile myoclonic epilepsy: a clinical and sleep EEG study
Q70389062Juvenile myoclonic epilepsy: a study in Saudi Arabia
Q73699492Juvenile myoclonic epilepsy: a study in Sri Lanka
Q69229386Juvenile myoclonic epilepsy: an autosomal recessive disease
Q30458723Juvenile myoclonic epilepsy: characteristics of a primary generalized epilepsy
Q74412457Juvenile myoclonic epilepsy: clinical and EEG features
Q74456107Juvenile myoclonic epilepsy: clinical characteristics, treatment and prognosis in a Norwegian population of patients
Q40591441Juvenile myoclonic epilepsy: diagnosis, management and outcome.
Q52900841Juvenile myoclonic epilepsy: disease expression among Indian families.
Q36622128Juvenile myoclonic epilepsy: epidemiology, pathophysiology, and management
Q48899693Juvenile myoclonic epilepsy: factors of error involved in the diagnosis and treatment
Q40658656Juvenile myoclonic epilepsy: is it an idiopathic epilepsy caused by a malformation of cortical development?
Q46172652Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.
Q48950138Juvenile myoclonic epilepsy: long-term response to therapy
Q43146748Juvenile myoclonic epilepsy: more trials are needed to guide therapy
Q82611126Juvenile myoclonic epilepsy: non-classic electroencephalographical presentation in adult patients
Q38113671Juvenile myoclonic epilepsy: psychiatric comorbidity and impact on outcome
Q50735984Juvenile myoclonic epilepsy: the impact of clinical variables and psychiatric disorders on executive profile assessed with a comprehensive neuropsychological battery.
Q30495543Juvenile myoclonic epilepsy: the janz syndrome
Q35075606Juvenile myoclonic epilepsy: under-appreciated and under-diagnosed
Q36971923Juvenile myoclonic epilepsy: when will it end
Q57410964Lack of Association Between Juvenile Myoclonic Epilepsy and HLA-DR13
Q73293987Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes
Q85837121Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population
Q47997235Lack of heart rate variability during apnea in patients with juvenile myoclonic epilepsy (JME).
Q83333480Lacosamide treatment of juvenile myoclonic epilepsy
Q44980459Lamotrigine for patients with juvenile myoclonic epilepsy following prior treatment with valproate: results of an open-label study
Q84205315Large motor unit territories by scanning electromyography in patients with juvenile myoclonic epilepsy
Q42381462Late-onset Juvenile Myoclonic Epilepsy or Frontal Lobe Epilepsy with Myoclonus
Q87955867Levetiracetam and Valproate Retention Rate in Juvenile Myoclonic Epilepsy
Q46824520Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents.
Q38026977Levetiracetam may worsen myoclonus in patients with juvenile myoclonic epilepsy: case reports
Q57053986Linkage analysis of idiopathic generalised epilepsy in families of probands with Juvenile Myoclonic Epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variants
Q35195036Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region
Q35882342Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region
Q43462933Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients
Q92720910Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy
Q71656667Long-term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy
Q73542108MR spectroscopy shows reduced frontal lobe concentrations of N-acetyl aspartate in patients with juvenile myoclonic epilepsy
Q92994403MRI endophenotypes of heritability and cognitive dysfunction in juvenile myoclonic epilepsy
Q95357654Major Susceptibility Genes for Common Idiopathic Epilepsies: ELP4 in Rolandic Epilepsy and BRD2 in Juvenile Myoclonic Epilepsy
Q69907189Mapping genes in juvenile myoclonic epilepsy
Q46469897Mental illness, personality traits and quality of life in epilepsy: control study of patients with juvenile myoclonic epilepsy and other epilepsies
Q91513325Meta-analysis of response inhibition in juvenile myoclonic epilepsy
Q91547467Methylation of cation-chloride cotransporters NKCC1 and KCC2 in patients with juvenile myoclonic epilepsy
Q63988296Microstructural and volumetric abnormalities of the putamen in juvenile myoclonic epilepsy
Q48251485Modulation of epileptiform EEG discharges in juvenile myoclonic epilepsy: an investigation of reflex epileptic traits
Q28262624Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy
Q57766822Motor Co-Activation of Juvenile Myoclonic Epilepsy in Siblings
Q34044039Motor co-activation in siblings of patients with juvenile myoclonic epilepsy: an imaging endophenotype?
Q96692322Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy
Q35007877Motor system hyperconnectivity in juvenile myoclonic epilepsy: a cognitive functional magnetic resonance imaging study
Q84988877Motor unit territories in juvenile myoclonic epilepsy patients
Q28254851Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy
Q73473447Mutation analysis of the inwardly rectifying K(+) channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy
Q28216597Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
Q28272490Mutations in EFHC1 cause juvenile myoclonic epilepsy
Q28251815Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy
Q24297551Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development
Q81343602Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy
Q95357675Myoclonin1/EFHC1 in cell division, neuroblast migration, synapse/dendrite formation in juvenile myoclonic epilepsy
Q35185047Neurodevelopment in new-onset juvenile myoclonic epilepsy over the first 2 years
Q99711198Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy
Q51182280Neurophysiology of juvenile myoclonic epilepsy: EEG-based network and graph analysis of the interictal and immediate preictal states.
Q46965896Neuropsychiatric profiles of patients with juvenile myoclonic epilepsy treated with valproate or topiramate
Q51907569Neuropsychological profile of patients with juvenile myoclonic epilepsy: a controlled study of 50 patients.
Q38409812Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: An extended study
Q38384016Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: a preliminary controlled experimental video-EEG case series
Q81801863No association of anti-GM1 and anti-GAD antibodies with juvenile myoclonic epilepsy: a pilot study
Q73473472No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
Q86889418No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy
Q73835552No evidence of linkage to 6p markers in spanish families with juvenile myoclonic epilepsy
Q75331074Non-convulsive status epilepticus: a rare presentation of juvenile myoclonic epilepsy
Q74331527Nonconvulsion status epilepticus in patients with juvenile myoclonic epilepsy: types and frequencies
Q81343608Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy
Q51770701Observations on juvenile myoclonic epilepsy amongst ethnic Bengalees in West Bengal--an Eastern Indian State.
Q79824861Open label, long-term, pragmatic study on levetiracetam in the treatment of juvenile myoclonic epilepsy
Q37391845Ophthalmoplegic migraine with isolated third cranial nerve palsy in a known case of juvenile myoclonic epilepsy
Q87128578Optical coherence tomography parameters in patients with photosensitive juvenile myoclonic epilepsy
Q83133116Outcome of lamotrigine treatment in juvenile myoclonic epilepsy
Q93107009Outcomes of low-dose valproic acid treatment in patients with juvenile myoclonic epilepsy
Q58360420P-1033 - Serum S100B levels in first-episode psychosis and juvenile myoclonic epilepsy
Q49016896Patient page. Juvenile myoclonic epilepsy, a common epilepsy syndrome
Q81892393Personality profile of patients with juvenile myoclonic epilepsy
Q45335486Personality traits in juvenile myoclonic epilepsy: evidence of cortical abnormalities from a surface morphometry study
Q48694455Personality traits related to juvenile myoclonic epilepsy: MRI reveals prefrontal abnormalities through a voxel-based morphometry study
Q73235949Pharmacokinetics of valproic acid in patients with juvenile myoclonic epilepsy on monotherapy
Q40203760Pharmacological outcomes in juvenile myoclonic epilepsy: Support for sodium valproate
Q44416338Phenotypic analysis of juvenile myoclonic epilepsy in Indian families
Q54060526Possible association of juvenile myoclonic epilepsy with HLA-DRw6.
Q80472614Potential efficacy of zonisamide in refractory juvenile myoclonic epilepsy: retrospective evidence from an Irish compassionate-use case series
Q27311980Praxis-induced seizures in a patient with juvenile myoclonic epilepsy: MEG-EEG coregistration study.
Q88577132Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types
Q38017730Predictors for long-term seizure outcome in juvenile myoclonic epilepsy: 25-63 years of follow-up
Q96821449Predictors of Outcome in Juvenile Myoclonic Epilepsy
Q50636435Predictors of seizure control in patients with juvenile myoclonic epilepsy (JME).
Q47645824Prevalence and clinical characteristics of headache in juvenile myoclonic epilepsy: experience from a tertiary epilepsy center.
Q40468978Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway.
Q91691416Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity
Q44013868Prognosis of juvenile myoclonic epilepsy 45 years after onset: seizure outcome and predictors
Q60634583Prognosis of juvenile myoclonic epilepsy is related to endophenotypes
Q57036216Progressive dissociation of cortical and subcortical network development in children with new-onset juvenile myoclonic epilepsy
Q51031632Prospective memory in patients with juvenile myoclonic epilepsy and their healthy siblings.
Q31044694Proton magnetic resonance spectroscopy in juvenile myoclonic epilepsy: A systematic review and meta-analysis
Q40372400Psychiatric disorders among 165 patients with juvenile myoclonic epilepsy in India and association with clinical and sociodemographic variables
Q79905617Psychiatric disorders in juvenile myoclonic epilepsy: a controlled study of 100 patients
Q74137087Psychogenic seizures mimicking juvenile myoclonic epilepsy: case reports
Q90361787Psychosocial complications in juvenile myoclonic epilepsy
Q92317386Recovery function of somatosensory evoked potentials in juvenile myoclonic epilepsy
Q42631150Reduced axon number in juvenile myoclonic epilepsy demonstrated by motor unit number estimation analysis
Q84101089Reduced movement-related β desynchronisation in juvenile myoclonic epilepsy: a MEG study of task specific cortical modulation
Q91485963Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors
Q80773401Regional grey matter abnormalities in juvenile myoclonic epilepsy: a voxel-based morphometry study
Q34145085Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy
Q34402638Risk-taking behavior in juvenile myoclonic epilepsy
Q70398635Segregation analysis of juvenile myoclonic epilepsy
Q48870042Seizure threshold in juvenile myoclonic epilepsy with Graves disease
Q26798186Seizure-Control Effect of Levatiracetam on Juvenile Myoclonic Epilepsy and Other Epileptic Syndromes: Literature Review of Recent Studies
Q34294079Sex-specific behavioral traits in the Brd2 mouse model of juvenile myoclonic epilepsy
Q48256715Sleep disturbances in juvenile myoclonic epilepsy: a sleep questionnaire-based study
Q58381442Social rhythm and other chronobiological findings in juvenile myoclonic epilepsy
Q74149591Somatosensory evoked potentials and EEG findings in siblings of juvenile myoclonic epilepsy patients
Q47860731Source localization of epileptiform discharges in juvenile myoclonic epilepsy (JME) using magnetoencephalography (MEG).
Q40543656Status epilepticus in patients with juvenile myoclonic epilepsy: Frequency, precipitating factors and outcome
Q91543670Structural and functional connectivity in newly diagnosed juvenile myoclonic epilepsy
Q37155051Structural brain abnormalities in juvenile myoclonic epilepsy patients: volumetry and voxel-based morphometry
Q72361142Subclinical anterior horn cell involvement in juvenile myoclonic epilepsy
Q92629016Subcortical gray matter changes in pediatric patients with new-onset juvenile myoclonic epilepsy
Q44258332Subcortical structural abnormalities in juvenile myoclonic epilepsy (JME): MR volumetry and vertex based analysis
Q90704624Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy
Q104682081Surround inhibition in patients with juvenile myoclonic epilepsy
Q40483974Susceptibility Gene for Juvenile Myoclonic Epilepsy Rings True.
Q51056060Terminal remission is possible in some patients with juvenile myoclonic epilepsy without therapy.
Q96124123Thalamic and cortical hyperexcitability in juvenile myoclonic epilepsy
Q44667917Thalamic dysfunction in juvenile myoclonic epilepsy: a proton MRS study
Q91348888Thalamic nuclei volumes and network in juvenile myoclonic epilepsy
Q96226639The Association Between Temperament Features And Childhood Traumas In Patients With Juvenile Myoclonic Epilepsy
Q92252741The Timing, Nature, and Range of Neurobehavioral Comorbidities in Juvenile Myoclonic Epilepsy
Q27308026The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy
Q48492831The effect of electrophysiological and neuroimaging findings on the prognosis of juvenile myoclonic epilepsy proband
Q33496263The first line of therapy in a girl with juvenile myoclonic epilepsy: should it be valproate or a new agent?
Q88736382The genetic basis of juvenile myoclonic epilepsy
Q72227451The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal
Q28267274The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and alpha1 subunit protein expression
Q34373916The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells
Q28586806The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella
Q38113665The quest for juvenile myoclonic epilepsy genes
Q95943652The role of cortisol in trust behavior: Results from an experimental study on healthy controls and patients with juvenile myoclonic epilepsy
Q67930131The seizure prognosis of juvenile myoclonic epilepsy
Q48294728The sleep-deprived brain in normals and patients with juvenile myoclonic epilepsy: a perturbational approach to measuring cortical reactivity
Q48408517The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivity
Q71507539The use of lamotrigine in juvenile myoclonic epilepsy
Q91245218Topiramate for juvenile myoclonic epilepsy
Q24186962Topiramate monotherapy for juvenile myoclonic epilepsy
Q24201882Topiramate monotherapy for juvenile myoclonic epilepsy
Q53483475Topiramate or valproate in patients with juvenile myoclonic epilepsy: a randomized open-label comparison.
Q103829184Trait impulsivity in Juvenile Myoclonic Epilepsy
Q27002409Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy
Q92078542Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy
Q91477086Treatment of Juvenile Myoclonic Epilepsy in Patients of Child-Bearing Potential
Q37129788Treatment of myoclonic seizures in patients with juvenile myoclonic epilepsy
Q41255182Treatment of pyknoleptic petit mal epilepsy and juvenile myoclonic epilepsy with dipropyl acetate (Deprakine). A pilot study of therapy-resistant patients during control of plasma concentration
Q37634650Two patients diagnosed with juvenile myoclonic epilepsy by first-ever status epilepticus in adult life
Q64970250Two patients with juvenile myoclonic epilepsy and nonconvulsive status epilepticus.
Q33868577Understanding juvenile myoclonic epilepsy: contributions from neuroimaging.
Q74477326Valproate as monotherapy for juvenile myoclonic epilepsy: dose-effect study
Q74209609Valproate lowered the amplitude of visual and somatosensory evoked potentials in two cases of untreated juvenile myoclonic epilepsy
Q48771066Valproate monotherapy in juvenile myoclonic epilepsy: dose-related effects on electroencephalographic and other neurophysiologic tests
Q95366931Valproic acid-induced pancreatitis in a 15-year-old boy with juvenile myoclonic epilepsy
Q34739231West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
Q91264671Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes
Q48644313Widespread cortical morphologic changes in juvenile myoclonic epilepsy: evidence from structural MRI.
Q71389679[A clinico-genealogical study of a family with juvenile myoclonic epilepsy]
Q77704493[Analysis of the changes observed in the sleep EEG recording of patients with juvenile myoclonic epilepsy]
Q91423387[Clinical and psychosocial factors associated with seizure control in patients with juvenile myoclonic epilepsy]
Q82986136[Clinical factors related to treatment resistance in juvenile myoclonic epilepsy]
Q70957755[Clinical-electrophysiological pattern of juvenile myoclonic epilepsy]
Q78137429[Clinical-epidemiological study of patients with juvenile myoclonic epilepsy in Santa Catarina State, Brazil]
Q78174519[Electroencephalographic studies of family members of patients with juvenile myoclonic epilepsy]
Q77165868[Genetic aspects of juvenile myoclonic epilepsy]
Q64925182[Janz's juvenile myoclonic epilepsy: a little-known frequent syndrome. A study of 85 patients]
Q74462607[Juvenile myoclonic epilepsy (Janz syndrome). A well-known epilepsy syndrome?]
Q78398779[Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances]
Q73050396[Juvenile myoclonic epilepsy misdiagnosed as focal epilepsy: variability of myoclonic seizures]
Q53726252[Juvenile myoclonic epilepsy with cherry-red spot in the fundus oculi. II. Histological and ultrastructural study of the hepatic biopsy]
Q69282587[Juvenile myoclonic epilepsy: Janz' syndrome]
Q67262162[Juvenile myoclonic epilepsy: a prospective study of 13 cases]
Q90092183[Juvenile myoclonic epilepsy: long-term prognosis and antiepileptic drug withdrawal]
Q85038917[Juvenile myoclonic epilepsy: under-diagnosed syndrome]
Q71201111[Misleading aspects of the standard electroencephalogram in juvenile myoclonic epilepsy: a retrospective study of 56 consecutive cases]
Q80046204[Myoclonic seizures induced by tramadol in patients with juvenile myoclonic epilepsy]
Q52136304[Psychiatric disorders in juvenile myoclonic epilepsy]
Q81361305[Study on interictal epileptiform discharges in juvenile myoclonic epilepsy patient with EEG-fMRI]
Q73075116[Treatment of juvenile myoclonic epilepsy with low-dose sodium valproate]

Q29005720Diacomittherapeutic areaP4044

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Arabic (ar / Q13955)صرع رمعي عضلي شبابيwikipedia
      Juvenilní myoklonická epilepsiewikipedia
      Juvenile myoclonic epilepsywikipedia
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      אפילפסיה מיוקלונית של גיל הנעוריםwikipedia
      Sindrome di Janzwikipedia
      Juveniele myoklonische epilepsiewikipedia

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