Helbig, Katherine L De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [electronic resource] - American journal of human genetics Mar 2019 - 562 p. digital Publication Type: Published Erratum ISSN: 1537-6605 Standard No.: 10.1016/j.ajhg.2019.02.015 doi