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Individuals with biallelic variants in <jats:italic>SLC1A4<\/jats:italic> are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) syndrome, but individuals with heterozygous variants are not thought to have disease. We identify an 8\u2010year\u2010old patient with global developmental delay, spasticity, epilepsy, and microcephaly who has a <jats:italic>de novo<\/jats:italic> heterozygous three amino acid duplication in <jats:italic>SLC1A4<\/jats:italic> (L86_M88dup). We demonstrate that L86_M88dup causes a dominant\u2010negative N\u2010glycosylation defect of SLC1A4, which in turn reduces the plasma membrane localization of SLC1A4 and the transport rate of SLC1A4 for L\u2010serine.<\/jats:p>","DOI":"10.1002\/acn3.51786","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T06:29:36Z","timestamp":1684304976000},"page":"1046-1053","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Dominant\u2010negative variant in <i>SLC1A4<\/i> causes an autosomal dominant epilepsy syndrome"],"prefix":"10.1002","volume":"10","author":[{"given":"Jonai","family":"Pujol\u2010Gim\u00e9nez","sequence":"first","affiliation":[{"name":"Department of Nephrology and Hypertension University Hospital Bern, Inselspital  Bern Switzerland"},{"name":"Department of Biomedical Research University of Bern  Bern 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