Ontology highlight
ABSTRACT:
SUBMITTER: Van Hoeymissen E
PROVIDER: S-EPMC7253177 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Van Hoeymissen Evelien E Held Katharina K Nogueira Freitas Ana Cristina AC Janssens Annelies A Voets Thomas T Vriens Joris J
eLife 20200519
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 mutations (V990M and P1090Q) have distinct effects on TRPM3 gating, including increased ...[more]