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Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.

Human mutation - 1 Oct 2021

Marcé-Grau Anna, Elorza-Vidal Xabier, Pérez-Rius Carla, Ruiz-Nel Lo Anna, Sala-Coromina Júlia, Gabau Elisabet, Estévez Raúl, Macaya Alfons

Abstract excerpt

De novo rare damaging variants in genes involved in critical developmental pathways, notably regulation of synaptic transmission, have emerged as a frequent cause of neurodevelopmental disorders (NDD). NDD show great locus heterogeneity and for many of the associated genes, there is substantial phenotypic diversity, including epilepsy, intellectual disability, autism spectrum disorder, movement disorders, and...

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PMID: 34212451
DOI: 10.1002/humu.24252

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