Juvenile Myoclonic Epilepsy
Last Posted: Jun 12, 2023
- 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
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