Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population

THG1L‐associated autosomal recessive ataxia belongs to a group of disorders that occur due to abnormal mitochondrial tRNA modification. The product of THG1L is the tRNA‐histidine guanylyltransferase 1‐like enzyme that catalyzes the 3′‐5“addition of guanine to the 5”‐end of tRNA‐histidine in the mito...

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