A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Fabian DannenbergArpad Von MoersPetra BittigauJörn LangeSylvia WiegandFerenc TörökGabriel StöltingAlexandra PinggeraM Mahdi MotazackerMarjoleine F BroekemaMarkus SchuelkeAngela M KaindlUte I SchollNadine Jasmin OrtnerPublished in: Neurology. Genetics (2024)
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