A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

@article{Fahrner2016AND,
  title={A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.},
  author={Jill A. Fahrner and Raymond D Liu and M. Scott Perry and Jessica L. Klein and David L. Chan},
  journal={American journal of medical genetics. Part A},
  year={2016},
  volume={170 8},
  pages={
          2002-11
        }
}
DNM1L encodes dynamin-related protein 1 (DRP1/DLP1), a key component of the mitochondrial fission machinery that is essential for proper functioning of the mammalian brain. Previously reported probands with de novo missense mutations in DNM1L presented in the first year of life with severe encephalopathy and refractory epilepsy, with several dying within the first several weeks after birth. In contrast, we report identical novel missense mutations in DNM1L in two unrelated probands who… CONTINUE READING
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