Dynamin-1 Developmental Epileptic Encephalopathy (DEE) is an ultra rare neurodevelopmental disease that is typically diagnosed in infancy and is caused by mutations in Dynamin-1.
Dynamin-1 is a protein encoded by the DNM1 gene (OMIM: Entry - *602377 - DYNAMIN 1; DNM1 - OMIM ).
Dynamin-1 is an 864 amino acid protein expressed mainly in the brain. The protein has a critical role in presynaptic vesicle recycling and assembles around the neck of vesicles pinching them off the plasma membrane (last step of endocytosis).
Mutations in the DNM1, mainly de novo single missense and heterozygous, destabilizes the protein and leads to slowed endocytosis and formation of larger vesicles.
The most common form of Dynamin-1 DEE is caused by heterozygous variants and is known as DEE31A as per OMIM, while rare homozygous forms are described as DEE31B. For more info please visit: Entry - #616346 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A; DEE31A - OMIM