{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:38:59Z","timestamp":1790501939188,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,6,6]],"date-time":"2019-06-06T00:00:00Z","timestamp":1559779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Myoclonic\u2010atonic epilepsy (MAE) is thought to have a genetic etiology. Mutations in\n                    <jats:italic>CHD2, SLC2A1<\/jats:italic>\n                    and\n                    <jats:italic>SLC6A1<\/jats:italic>\n                    genes have been reported in few patients showing often intellectual disability prior to MAE onset. We aimed to explore putative causal genetic factors in MAE. We performed array\u2010CGH and whole\u2010exome sequencing in 27 patients. We considered non\u2010synonymous variants, splice acceptor, donor site mutations, and coding insertions\/deletions. A gene was causal when its mutations have been already linked to epilepsy or other brain diseases or when it has a putative function in neuronal excitability or brain development. We identified candidate disease\u2010causing variants in 11 patients (41%). Single variants were found in some known epilepsy\u2010associated genes (namely\n                    <jats:italic>CHD2<\/jats:italic>\n                    ,\n                    <jats:italic>KCNT1<\/jats:italic>\n                    ,\n                    <jats:italic>KCNA2<\/jats:italic>\n                    and\n                    <jats:italic>STXBP1<\/jats:italic>\n                    ) but not in others (\n                    <jats:italic>SLC2A1<\/jats:italic>\n                    and\n                    <jats:italic>SLC6A1<\/jats:italic>\n                    ). One new candidate gene\n                    <jats:italic>SUN1<\/jats:italic>\n                    requires further validation. MAE shows underlying genetic heterogeneity with only few cases linked to mutations in genes reported in developmental and epileptic encephalopathies.\n                  <\/jats:p>","DOI":"10.1111\/cge.13581","type":"journal-article","created":{"date-parts":[[2019,6,6]],"date-time":"2019-06-06T12:09:51Z","timestamp":1559822991000},"page":"254-260","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Exome sequencing findings in 27 patients with myoclonic\u2010atonic epilepsy: Is there a major genetic factor?"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-9208","authenticated-orcid":false,"given":"Laura","family":"Routier","sequence":"first","affiliation":[{"name":"Reference Centre for Rare Epilepsies Pediatric Neurology, Necker Enfants\u2010Malades Hospital  Paris France"},{"name":"Pediatric Neurology Amiens\u2010Picardie University Hospital  Amiens France"},{"name":"GRAMFC\u2010INSERM U1105 UPJV  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florine","family":"Verny","sequence":"additional","affiliation":[{"name":"Reference Centre for Rare Epilepsies Pediatric Neurology, Necker Enfants\u2010Malades Hospital  Paris France"},{"name":"INSERM UMR1163, Translational Research for Neurological Disorders, Imagine Institute, Paris\u2010Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6657-5040","authenticated-orcid":false,"given":"Giulia","family":"Barcia","sequence":"additional","affiliation":[{"name":"Clinical Genetics Necker Enfants\u2010Malades Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Chemaly","sequence":"additional","affiliation":[{"name":"Reference Centre for Rare Epilepsies Pediatric Neurology, Necker Enfants\u2010Malades Hospital  Paris 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