Article
Genetic basis of sleep phenotypes and rare neurodevelopmental syndromes reveal shared molecular pathways.
Journal of neuroscience research - 1 Jul 2023
Moysés-Oliveira Mariana, Paschalidis Mayara, Souza-Cunha Lais A, Esteves-Guerreiro Pedro A, Adami Luana Nayara Gallego, Kloster Anna K, Mosini Amanda C, Moreira Gustavo A, Doria Sandra, Tempaku Priscila F, Pires Gabriel N, Andersen Monica L, Tufik Sergio
Abstract excerpt
Sleep-related phenotypes have been frequently reported in early on-set epileptic encephalopathies and in developmental delay syndromes, in particular in syndromes related to autism spectrum disorder. Yet the convergent pathogenetic mechanisms between these comorbidities are largely unknown. We first performed a gene enrichment study that identified shared risk genes among rare epileptic...
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