Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., … Mefford, H. C. (2019). De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet, 104(3), 562. https://doi.org/10.1016/j.ajhg.2019.02.015

Helbig, Katherine L., Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, et al. “De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.” Am J Hum Genet 104, no. 3 (March 7, 2019): 562. https://doi.org/10.1016/j.ajhg.2019.02.015.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, et al. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 7;104(3):562.

Helbig, Katherine L., et al. “De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.” Am J Hum Genet, vol. 104, no. 3, Mar. 2019, p. 562. Pubmed, doi:10.1016/j.ajhg.2019.02.015.

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