Progressive Myoclonic Epilepsy
What's New
Last Posted: Sep 09, 2023
- Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Federica Pondrelli, et al. Orphanet journal of rare diseases 2023 0 (1) 263 - Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Lee Bo Hoon, et al. American journal of medical genetics. Part A 2020 0 (10) 2369-2371 - The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee Michelle M, et al. Annals of clinical and translational neurology 2022 0 (12) 1941-1952 - Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus Corina-Marcela, et al. Orphanet journal of rare diseases 2022 0 (1) 179 - CLINGEN Actionability Report for Gaucher Disease - GBA
ClinGen Actionability Working Group - No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
Mumoli Laura, et al. Epilepsia 2015 4 (4) e40-3 - Progressive myoclonic epilepsy
From NCATS Genetic and Rare Diseases Information Center
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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
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
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