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AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes\n                    <jats:italic>GRIA1<\/jats:italic>\n                    -\n                    <jats:italic>4<\/jats:italic>\n                    . Increasing evidence support the role of pathogenic variants in\n                    <jats:italic>GRIA1-4<\/jats:italic>\n                    genes as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred for severe ID, myoclonic seizures, cerebellar signs and short stature. Whole exome sequencing identified a novel variant in\n                    <jats:italic>GRIA3<\/jats:italic>\n                    , c.2360A\u2009&gt;\u2009G, p.(Glu787Gly). The\n                    <jats:italic>GRIA3<\/jats:italic>\n                    gene maps to\u00a0chromosome Xq25 and the c.2360A\u2009&gt;\u2009G variant was transmitted by his healthy mother. Subsequent analysis in the family showed a segregation pattern compatible with the causative role of this variant, further supported by preliminary functional insights. We provide a detailed description of the clinical evolution of the index subjects and stress the relevance of myoclonic seizures and cerebellar syndrome as cardinal features of his presentation.\n                  <\/jats:p>","DOI":"10.1007\/s10048-021-00666-1","type":"journal-article","created":{"date-parts":[[2021,11,3]],"date-time":"2021-11-03T04:05:55Z","timestamp":1635912355000},"page":"27-35","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene"],"prefix":"10.1007","volume":"23","author":[{"given":"Berardo","family":"Rinaldi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Han","family":"Ge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Freri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Tucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Granata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Estienne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Hui","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"G\u00e9rard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun Stone","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Marchisio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,3]]},"reference":[{"issue":"4","key":"666_CR1","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1002\/cne.10981","volume":"468","author":"M Beneyto","year":"2004","unstructured":"Beneyto M, Meador-Woodruff JH (2004) Expression of transcripts encoding AMPA receptor subunits and associated postsynaptic proteins in the macaque brain. 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