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<i>Arfgef1</i> haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABA <sub>A</sub> receptors

2019-09-08

Abstract excerpt

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 frameshift mutation (Arfgef1 fs ) in mice. Arfgef1 fs/+ pups exhibit signs of developmental delay, and Arfgef1 fs/+ adults have a significantly decreased threshold...

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Literature Corpus work
d755d22e-85cc-591e-9aee-9be33b3fe598
DOI
10.1101/743625
Open publication

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<i>Arfgef1</i> haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABA <sub>A</sub> receptorsDOI 10.1101/743625
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