Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy
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DOI: 10.7554/elife.57190
Abstract: Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of disorders characterized by epilepsy with comorbid intellectual disability. Recently, two de novo heterozygous mutations in the gene encoding TRPM3, a calcium permeable ion channel, were… read more here.
Keywords: gain channel; intellectual disability; channel function;