A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F, Von Moers A, Bittigau P, Lange J, Wiegand S, Török F, Stölting G, Striessnig J, Motazacker MM, Broekema MF, Schuelke M, Kaindl AM, Scholl UI, Ortner NJ.
Dannenberg F, et al. Among authors: torok f.
Neurol Genet. 2024 Sep 6;10(5):e200186. doi: 10.1212/NXG.0000000000200186. eCollection 2024 Oct.
Neurol Genet. 2024.
PMID: 39246741
Free PMC article.