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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Author:

Katherine L. Helbig,Robert J. Lauerer,Jacqueline C. Bahr,Ivana A. Souza,Candace T. Myers,Betül Uysal,Niklas Schwarz,Maria A. Gandini,Sun Huang,Boris Keren,Cyril Mignot,Alexandra Afenjar,Thierry Billette de Villemeur,Delphine Héron,Caroline Nava et al.

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

1 November 2018

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