Juvenile Myoclonic Epilepsy
What's New
Last Posted: Dec 08, 2024
- Whole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy.
Ansam M Yacoub, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024 0 - EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.
Kezban Aslan-Kara, et al. Seizure 2023 0 79-83 - 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
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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