Myoclonus Epilepsy
What's New
Last Posted: Mar 01, 2023
- Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.
Bosak Magdalena, et al. Epilepsy & behavior : E&B 2020 0 107439 - Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Orsini Alessandro, et al. Journal of neurology 2022 0 (7) 3597-3604 - Progressive myoclonus epilepsy associated with SACS gene mutations.
Nascimento Fábio A, et al. Neurology. Genetics 2016 8 (4) e83 - Screening of mitochondrial mutations and insertion-deletion polymorphism in gestational diabetes mellitus in the Asian Indian population.
Khan Imran Ali, et al. Saudi journal of biological sciences 2015 5 (3) 243-8 - No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
Mumoli Laura, et al. Epilepsia 2015 4 (4) e40-3 - [Screening of mitochondrial deoxyribonucleic acid 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in mitochondrial encephalomyopathies].
Xu Jian-biao, et al. Zhonghua yi xue za zhi 2011 4 (14) 969-72 - Myoclonus epilepsy
From NCATS Genetic and Rare Diseases Information Center - Myoclonus epilepsy partial seizure
From NCATS Genetic and Rare Diseases Information Center - Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.
Singh Shweta, et al. Human mutation 2009 5 (5) 715-23 - Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
Marotta R, et al. Internal medicine journal 0 0 (1-2) 10-9
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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
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 22, 2023
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