Article
Neurocardiogenetics: Exploring the association of rare RYR2 variants with neuropsychiatric disorders in general and disease populations.
Journal of neurogenetics - 1 Jan 2026
Dababneh Saif F, Roberts Jason D, Tan Sixuan, Wei Jinhong, Wang Ruiwu, Estillore John Paul, Kallas Dania, Tibbits Glen F, Sanatani Shubhayan, Chen S R Wayne, Roston Thomas M
Abstract excerpt
Overlapping neuropsychiatric and cardiac features in rare monogenic syndromes stem from shared gene expression. Pathogenic gain-of-function RYR2 variants, leading to a lethal cardiac arrhythmia syndrome known as catecholaminergic polymorphic ventricular tachycardia (CPVT), have also been associated with neuropsychiatric disorders such as epilepsy, schizophrenia, and intellectual disability. Neuropsychiatric...
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