Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
Author:
Affiliation:
1. Dongguan Maternal and Child Health Care Hospital Dongguan China
2. Dongguan Institute of Reproductive and Genetic Research Dongguan China
Funder
Dongguan Social Development Project
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1434
Reference25 articles.
1. Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel
2. New insights into the pathogenesis and therapeutics of episodic ataxia type 1;D'Adamo M. C.;Frontiers in Cellular Neuroscience,2015
3. A novelKCNA1mutation associated with global delay and persistent cerebellar dysfunction
4. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
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