About
Contact & Profiles
A5062050556
Research Areas
- Mitochondrial Function and Pathology
- Ion channel regulation and function
- Genetic Neurodegenerative Diseases
Dongguan People’s Hospital
2020
Abstract Background Pathogenic KCNA1 variants have been linked to episodic ataxia type 1 (EA1), a rare neurological syndrome characterized by continuous myokymia and attacks of generalized that can be triggered fever, abrupt movements, emotional stress, fatigue. Currently, over 40 identified in individuals with EA1. Methods A male patient displayed partial seizures addition EA1 symptoms, often fever. sibling presented typical seizures, learning difficulties. In addition, the older brother...
10.1002/mgg3.1434
article
EN
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Molecular Genetics & Genomic Medicine
2020-07-23
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