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Remarkably, these insertions have occurred in noncoding regions of genes expressed in the cerebellum, but with highly diverse functions. These conditions, clinically very heterogeneous, may remain underdiagnosed in patients with atypical phenotypes and age at onset. They share, however, many genetic and phenotypic features, and discovery or detection of their pathogenic pentanucleotide repeats for diagnostic purposes can be achieved using recent bioinformatic methods. Here, we focus on the latest advances regarding the peculiar group of pentanucleotide repeat\u2010related disorders beyond epilepsies.<\/jats:p>","DOI":"10.1111\/epi.17593","type":"journal-article","created":{"date-parts":[[2023,3,24]],"date-time":"2023-03-24T08:34:50Z","timestamp":1679646890000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Pentanucleotide repeat\u2010related disorders: Genetics and bioinformatic discovery and detection"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2610-5260","authenticated-orcid":false,"given":"Isabel","family":"Silveira","sequence":"first","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"},{"name":"Institute for Molecular and Cell Biology University of Porto  Porto 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