West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction
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DOI: 10.1007/s12035-021-02291-3
Abstract: Vesicular chloride/proton exchangers of the CLC family are critically involved in the function of the endosomal-lysosomal pathway. Their dysfunction leads to severe disorders including intellectual disability and epilepsy for ClC-4, Dent’s disease for ClC-5, and… read more here.
Keywords: west syndrome; clc; dysfunction; proton ... See more keywords