KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.

Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F
Neurobiol Dis. 2017 106: 35-48

PMID: 28647557 · DOI:10.1016/j.nbd.2017.06.013

MeSH Terms (17)

Agenesis of Corpus Callosum Animals Carbamazepine Cells, Cultured Chlorides Disease Models, Animal Mice, Inbred C57BL Mice, Transgenic Motor Neurons Neuromuscular Junction Neurotransmitter Agents Peripheral Nervous System Diseases Presynaptic Terminals Sodium-Potassium-Exchanging ATPase Spinal Cord Symporters Synaptic Transmission

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