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Published in 2020 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2019.104632
Abstract: ARFGEF1 encodes a guanine exchange factor involved in intracellular vesicle trafficking, and is a candidate gene for childhood genetic epilepsies. To model ARFGEF1 haploinsufficiency observed in a recent Lennox Gastaut Syndrome patient, we studied a…
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Keywords:
arfgef1 haploinsufficiency;
surface;
endosome composition;
gabaa receptors ... See more keywords