Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Lance H RodanRebecca C SpillmannHarley T KurataShawn M LamotheJasmine MagheraRami Abou JamraAnna AlkelaiStylianos E AntonarakisIsis AtallahOmer Bar-YosefFrédéric BilanKathrine BjorgoXavier BlancPatrick Van BogaertYoav BolkierLindsay C BurrageBjörn U ChristJorge L GranadilloPatricia DicksonKirsten A DonaldChristèle DubourgAviva EliyahuLisa EmrickKendra EnglemanMichaela Veronika GonfiantiniJean-Marc GoodJudith KalserChiara KloecknerGuus LachmeijerMarina MacchiaioloFrancesco NicitaSylvie OdentEmily O'HeirXilma Ortiz-GonzalezMarta Pacio-MiguezMaría Palomares-BraloLoren PenaKonrad PlatzerMathieu QuinodozEmmanuelle RanzaJill A RosenfeldEliane Roulet-PerezAvni SantaniFernando Santos-SimarroBen Pode-ShakkedCara SkrabanRachel SlaughAndrea Superti-FurgaIsabelle ThiffaultRichard H van JaabrsveldMarie VincentHong-Gang WangPia Zachernull nullEric RushGeoffrey S PittPing Yee Billie AuVandana ShashiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
We expand the phenotype associated with CACNA1C variants to include neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or long QT syndrome.
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