Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11684-021-0863-4.pdf
Reference36 articles.
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2. Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency;Annals of Neurology;2024-07-09
3. Evaluating the Performance of In silico Tools for PRRT2 Missense Variants;Combinatorial Chemistry & High Throughput Screening;2024-06-20
4. Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy;European Journal of Human Genetics;2024-02-05
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