Discovery of endocannabinoid gene mutation leads to identification of new, rare pediatric neurological disease

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Discovery of endocannabinoid gene mutation leads to identification of new, rare pediatric neurological disease

In a study published in the October 2022 issue of Brain, researchers from Rady Children’s Institute for Genomic Medicine (RCIGM) and the University of California San Diego School of Medicine describe their discovery of a new clinical syndrome, Neuro-Ocular DAGLA-related Syndrome (NODRS), in children with termination variants in the diacylglycerol lipase alpha (DAGLA) gene which encodes an enzyme in the brain that is involved in the signaling pathway of the endocannabinoid (eCB) system.

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