Episodic Ataxia
What's New
Last Posted: Mar 10, 2023
- Genetic Variants Associated with Episodic Ataxia in Korea.
Choi Kwang-Dong, et al. Scientific reports 2017 0 (1) 13855 - Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz N, et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2019 0 (3) 438-447 - Clinical phenotypes of infantile onset CACNA1A-related disorder.
Gur-Hartman Tamar, et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020 0 144-154 - Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Maksemous Neven, et al. Biomedicines 2020 0 (5) - CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.
Li Xue-Lian, et al. Frontiers in molecular neuroscience 2022 0 860662 - Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson Ruth, et al. American journal of medical genetics. Part A 2021 0 (3) 867-877 - Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review.
Novis Luiz Eduardo et al. Arquivos de neuro-psiquiatria 2020 Jul - The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine.
Pellacani Simona et al. Frontiers in cellular neuroscience 2016 10156 - PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Gardiner AR, et al. Neurology 2012 10 - Episodic ataxia
From NCATS Genetic and Rare Diseases Information Center - Episodic ataxia with nystagmus
From NCATS Genetic and Rare Diseases Information Center - Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Mantuano Elide, et al. Journal of the neurological sciences 2010 4 (1-2) 30-6
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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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