Article

Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy

2020-04-03

Abstract excerpt

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 identified as the cause of DEE in eight probands, but the functional consequences of the mutations remained elusive. Here we demonstrate that both mut...

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Literature Corpus work: 141898e0-3e8e-5447-adc6-84f13d5532b1
DOI: 10.1101/2020.04.02.021758

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