Helbig, Katherine L., Lauerer R. et al. (2018): De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Lauerer, Robert J. & Lerche, Holger (2023): voltage-gated calcium channels in genetic epilepsies

Royer-Bertrand, Beryl et al. (2021): De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Schneider, Toni et al. (2020): Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants:
a historical perspective

Souza, Ivana A., Gandini, Maria, Zamponi, Gerald et al. (2026): 

Characterization of Three Distinct Loss-of-Function Cav2.3 Variants