DNM1 encephalopathy: A new disease of vesicle fission

Conclusions:
The phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.

Source: Neurology - July 24, 2017 Category: Neurology Authors: von Spiczak, S., Helbig, K. L., Shinde, D. N., Huether, R., Pendziwiat, M., Lourenco, C., Nunes, M. E., Sarco, D. P., Kaplan, R. A., Dlugos, D. J., Kirsch, H., Slavotinek, A., Cilio, M. R., Cervenka, M. C., Cohen, J. S., McClellan, R., Fatemi, A., Yuen, A Tags: Developmental disorders, Infantile spasms ARTICLE Source Type: research