Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

Thomas WirthEmmanuel RozeClarisse DelvalléeOriane TrouillardNathalie DrouotPhilippe DamierClotilde BoulayMarine BourgninaudPrasanthi JegatheesanAude SangareSylvie ForlaniBertrand GaymardRemi HervochonVincent NavarroNadège CalmelsAudrey SchalkChristine TranchantAmélie PitonAurélie MéneretMathieu Anheim

Published in: Movement disorders : official journal of the Movement Disorder Society (2024)

We demonstrated that both rare monoallelic and biallelic missense variants in KCNJ10 are associated with PKD. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

intellectual disability
copy number
autism spectrum disorder
atrial fibrillation
randomized controlled trial
dna methylation
genome wide