Article
De novo NSF mutations cause early infantile epileptic encephalopathy.
Annals of clinical and translational neurology - 1 Nov 2019
Suzuki Hisato, Yoshida Takeshi, Morisada Naoya, Uehara Tomoko, Kosaki Kenjiro, Sato Katsunori, Matsubara Kohei, Takano-Shimizu Toshiyuki, Takenouchi Toshiki
Abstract excerpt
N-ethylmaleimide-sensitive factor (NSF) plays a critical role in intracellular vesicle transport, which is essential for neurotransmitter release. Herein, we, for the first time, document human monogenic disease phenotype of de novo pathogenic variants in NSF, that is, epileptic encephalopathy of early infantile onset. When expressed in the developing eye of Drosophila, the mutant NSF severely affected eye...
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