Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS7
A novel mutation in ryanodine receptor 2 (RYR2) genes at c.12670G>T associated with focal epilepsy in a 3-year-old child.
Hu J et al.
Frontiers in Pediatrics, 2022
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia.
Ma MG et al.
Frontiers in Neuroscience, 2021
Novel West syndrome candidate genes in a Chinese cohort.
Peng J et al.
Cns Neuroscience & Therapeutics, 2018
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