| http://purl.uniprot.org/citations/31278393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31278393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31278393 | http://www.w3.org/2000/01/rdf-schema#comment | "The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic encephalopathies frequently associated with rare de novo nonsynonymous coding variants in neuronally expressed genes. Here, we describe eight probands with a DEE phenotype comprising intellectual disability, epilepsy, and hypotonia. Exome trio analysis showed de novo variants in TRPM3, encoding a brain-expressed transient receptor potential channel, in each. Seven probands were identically heterozygous for a recurrent substitution, p.(Val837Met), in TRPM3's S4-S5 linker region, a conserved domain proposed to undergo conformational change during gated channel opening. The eighth individual was heterozygous for a proline substitution, p.(Pro937Gln), at the boundary between TRPM3's flexible pore-forming loop and an adjacent alpha-helix. General-population truncating variants and microdeletions occur throughout TRPM3, suggesting a pathomechanism other than simple haploinsufficiency. We conclude that de novo variants in TRPM3 are a cause of intellectual disability and epilepsy."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41431-019-0462-x"xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41431-019-0462-x"xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "McWalter K."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "McWalter K."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Smith R."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Smith R."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Terhal P.A."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Terhal P.A."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Shinawi M."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Shinawi M."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "van Gassen K."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "van Gassen K."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Rustad C.F."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Rustad C.F."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Tveten K."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Tveten K."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Dyment D.A."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Dyment D.A."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Innes A.M."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Innes A.M."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Lines M.A."xsd:string |
| http://purl.uniprot.org/citations/31278393 | http://purl.uniprot.org/core/author | "Lines M.A."xsd:string |