Research

The first research and publication on CACNA1E was led by Dr. Katherine L. Helbig in 2018.

Dr. Helbig is part of the Division of Neurology at the Children’s Hospital of Philadelphia.

Together with many renowned doctors from all over the world, the following article has been published:

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

Source:
https://www.sciencedirect.com/science/article/pii/S0002929718303173
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110/
https://www.cell.com/action/showPdf?pii=S0002-9297%2818%2930317-3

Cacna1e publication 2018.pdf

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Dr. Helbig's co-author Dr. Robert Lauerer-Braun wrote his doctoral thesis about CACNA1E.

After Dr. Helbig discontinued her research on CACNA1E, Dr. Lauerer-Braun, together with Dr. Holger Lerche at the renowned University Hospital Tübingen, Germany, has set himself the task of continuing research on the gene mutation at the calcium channel.