Ontology highlight
ABSTRACT:
SUBMITTER: Bainbridge MN
PROVIDER: S-EPMC9586540 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Bainbridge Matthew N MN Mazumder Aloran A Ogasawara Daisuke D Abou Jamra Rami R Bernard Geneviève G Bertini Enrico E Burglen Lydie L Cope Heidi H Crawford Ali A Derksen Alexa A Dure Leon L Gantz Emily E Koch-Hogrebe Margarete M Hurst Anna C E ACE Mahida Sonal S Marshall Paige P Micalizzi Alessia A Novelli Antonio A Peng Hongfan H Rodriguez Diana D Robbins Shira L SL Rutledge S Lane SL Scalise Roberta R Schließke Sophia S Shashi Vandana V Srivastava Siddharth S Thiffault Isabella I Topol Sarah S Qebibo Leila L Wieczorek Dagmar D Cravatt Benjamin B Haricharan Svasti S Torkamani Ali A Friedman Jennifer J
Brain : a journal of neurology 20221001 10
The endocannabinoid system is a highly conserved and ubiquitous signalling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease. We identified nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All children displayed paroxysms of nystagmu ...[more]