Juvenile Myoclonic Epilepsy
Last Posted: Nov 01, 2023
- Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.
Aurelio Jara-Prado, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 0
- Structural insights of novel mutational frames in Bromodomain Containing-2 gene (BRD2) in juvenile myoclonic epilepsy: bed, bench, and laptop profiles.
Jyothinath Kothapalli, et al. Epilepsy & behavior : E&B 2023 0 109282
- Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy.
Lin Zhi-Jian, et al. Neurogenetics 2023 0
- Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.
Landoulsi Zied, et al. Neurogenetics 2018 0 (3) 165-178
- DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians.
Pathak Shilpa, et al. Epilepsia 2018 0 (5) 1011-1019
- Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.
Chan Chung-Kin, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 0 (3) 591-598
- Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome.
Fanella Martina, et al. Journal of medical genetics 2019 0 (3) 151-159
- No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Schulz Herbert, et al. Epilepsia 2019 0 (5) e31-e36
- Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy.
Stefani Stefani, et al. Frontiers in integrative neuroscience 2020 0 45
- Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.
Gonsales Marina C, et al. Epilepsy & behavior : E&B 2020 0 107469
- Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy.
Dahawi Maha, et al. Frontiers in neurology 2021 0 738272
- Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK.
Salvati Kathryn A, et al. International journal of molecular sciences 2021 0 (16)
- Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
Saleem Tayyaba, et al. BioMed research international 2021 0 7509825
- Risk factors of paradoxical reactions to anti-seizure medication in genetic generalized epilepsy.
Gesche Joanna, et al. Epilepsy research 2021 0 106547
- Individualised 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
R Stevelink et al, EBiomedicine, November 11, 2022
- ndividualised 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
R Stevelink et al, EBiomedicine, November 11, 2022
- Association Analysis of Candidate Variants in Admixed Brazilian Patients With Genetic Generalized Epilepsies.
Kaibara Felipe S, et al. Frontiers in genetics 2021 0 672304
- Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
Lee Cha Gon, et al. PloS one 2018 0 (6) e0199321
- Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey Julia N et al. The New England journal of medicine 2018 Mar (11) 1018-1028
- Gain-of-function HCN2 variants in genetic epilepsy.
Li Melody, et al. Human mutation 2017 10
- Case-control pharmacogenetic study of HCN1/HCN2 variants and genetic generalized epilepsies.
Wu Shu-Zhi, et al. Clinical and experimental pharmacology & physiology 2017 10
- Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Johannesen Katrine, et al. Neurology 2016 8
- EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Bailey Julia N, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 7
- De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera Hirofumi, et al. Epilepsia 2016 2
- Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
Yapijakis Christos, et al. In vivo (Athens, Greece) 0 0 (6) 1193-6
- Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy.
Born João Paulo Lopes, et al. Arquivos de neuro-psiquiatria 2015 4 (4) 289-92
- Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.
von Podewils Felix et al. Epilepsy Behav 2015 Jan 24. 61-66
- No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
Mumoli Laura, et al. Epilepsia 2015 4 (4) e40-3
- Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran Ryan L, et al. Epilepsia 2015 2 (2) 188-94
- Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study.
Esmail Eman H, et al. Acta neurologica Belgica 2015 9 (3) 247-51
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- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 08, 2023
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