Open Close
Reference
Citation
Suzuki, H., Yoshida, T., Morisada, N., Uehara, T., Kosaki, K., Sato, K., Matsubara, K., Takano-Shimizu, T., Takenouchi, T. (2019). De novo NSF mutations cause early infantile epileptic encephalopathy.  Ann. Clin. Transl. Neurol. 6(11): 2334--2339.
FlyBase ID
FBrf0244012
Publication Type
Research paper
Abstract

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 development, while the wild-type allele had no detectable effect under the same conditions. Our findings suggest that the two pathogenic variants exert a dominant negative effect. De novo heterozygous mutations in the NSF gene cause early infantile epileptic encephalopathy.

PubMed ID
PubMed Central ID
PMC6856629 (PMC) (EuropePMC)
Associated Information
Comments
Associated Files
Other Information
Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Ann. Clin. Transl. Neurol.
    Title
    Annals of clinical and translational neurology
    ISBN/ISSN
    2328-9503
    Data From Reference
    Alleles (9)
    Genes (2)
    Human Disease Models (1)
    Natural transposons (1)
    Experimental Tools (2)
    Transgenic Constructs (9)