University of Southampton
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CreaT1 is essential for normal brain and muscular function as mutations in the gene (SLC6A8) result in X-linked mental retardation, severe speech and language delay, epilepsy, autistic behavior, and muscular abnormalities (e.g., hypotonia) (Bala et al
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Furthermore, it has been indicated that their deficiency is linked to reduced DNA methylation due to the disruption of DNMT enzymes 33,34