Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5.
Hannah C HappLynette G SadleirMatthew ZemelGuillem de Valles-IbáñezMichael S HildebrandAllyn McConkie-RosellMarie McDonaldHalie MayTristan T SandsVimla AggarwalChristopher ElderTimothy FeymaCarolina AlvarezRikke Steensjerre MollerChristina D FengerJens Erik Klint NielsenAnita N DattaKathleen M GormanMary D KingNatalia LinharesBarbara K BurtonAndrea ParasSian EllardJulia RankinAnju ShuklaPurvi MajethiaRory J OlsonKarthik MuthusamyLisa A SchimmentiKeith StarnesLucie SedlackovaKatalin SterbovaMarketa VlckovaPetra LassuthovaAlena JahodovaBrenda E PorterNathalie CouqueEstelle ColinClément ProuteauCorinne ColletThomas SmolRoseline CaumesFleur VansenneFrancesca BisulliFrancesca BisulliRichard PersonErin TortiKirsty McWalterRichard WebsterElizabeth E GerardGaetan LescaPierre SzepetowskiIngrid Eileen SchefferHeather C MeffordGemma L CarvillPublished in: Neurology (2022)
as implicated in a spectrum of neurodevelopmental disorders (NDDs) and epilepsy.