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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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | inglese |
| Pubblicazione: |
2020
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| Accesso online: | https://doi.org/10.7554/elife.57190 |
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