Lafora Disease
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 - Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease.
Afrantou Theodora, et al. Seizure 2021 0 49-51 - 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 - Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva Antonella, et al. Journal of the neurological sciences 2021 3 117409 - Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan Elif Acar et al. Brain & development 2019 Sep - Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin.
Kecmanovi? M, et al. Clinical genetics 2015 2 - Lafora disease
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
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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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