Cause of Diyanna’s condition is identified as CACNA1E gene

Cause of Diyanna’s condition is identified as CACNA1E gene by

Dr. Ingrid E Scheffer AO
MBBS PhD FRACP FAES FAHMS FAA
Laureate Professor, Departments of Medicine and Paediatncs
The University of Melbourne
Director of Paediatrics, Austin Health
Honorary Senior Principal Research Fellow, The F/orey
Paediatric Neurologist

CACNA1E encodes a brain specific protein that makes a channel (gateway) and is involved in sending electrical signals between brain cells. It causes a developmental and epileptic encephalopathy.

See the Research Paper : De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias