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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Detalles Bibliográficos
Autores principales: Van Hoeymissen, Evelien, Held, Katharina, Nogueira Freitas, Ana Cristina, Janssens, Annelies, Voets, Thomas, Vriens, Joris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253177/
https://www.ncbi.nlm.nih.gov/pubmed/32427099
http://dx.doi.org/10.7554/eLife.57190

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253177/
https://www.ncbi.nlm.nih.gov/pubmed/32427099
http://dx.doi.org/10.7554/eLife.57190

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