Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

doi:10.1093/brain/awac223

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Article

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Brain : a journal of neurology - 21 Oct 2022

Bainbridge Matthew N, Mazumder Aloran, Ogasawara Daisuke, Abou Jamra Rami, Bernard Geneviève, Bertini Enrico, Burglen Lydie, Cope Heidi, Crawford Ali, Derksen Alexa, Dure Leon, Gantz Emily, Koch-Hogrebe Margarete, Hurst Anna C E, Mahida Sonal, Marshall Paige, Micalizzi Alessia, Novelli Antonio, Peng Hongfan, Rodriguez Diana, Robbins Shira L, Rutledge S Lane, Scalise Roberta, Schließke Sophia, Shashi Vandana, Srivastava Siddharth, Thiffault Isabella, Topol Sarah, Qebibo Leila, Wieczorek Dagmar, Cravatt Benjamin, Haricharan Svasti, Torkamani Ali, Friedman Jennifer

Abstract excerpt

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,...

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PMID: 35737950
DOI: 10.1093/brain/awac223
PMCID: PMC9586540

Genes

DAGLA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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