Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-020-02123-9.pdf
Reference25 articles.
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2. Almomani R et al (2016) Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy. J Am College Cardiol 67:515–525. https://doi.org/10.1016/j.jacc.2015.10.093
3. Brand SH, Castle JD (1993) SCAMP 37, a new marker within the general cell surface recycling system. EMBO J 12:3753–3761
4. Brose N, Petrenko AG, Sudhof TC, Jahn R (1992) Synaptotagmin: a calcium sensor on the synaptic vesicle surface. Science (New York, NY) 256:1021–1025
5. Castermans D et al (2010) SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet 19:1368–1378. https://doi.org/10.1093/hmg/ddq013
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