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Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy
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...
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| Veröffentlicht in: | eLife |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
eLife Sciences Publications, Ltd
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7253177/ https://ncbi.nlm.nih.gov/pubmed/32427099 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.57190 |
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