{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:05:30Z","timestamp":1790744730244,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,7,30]],"date-time":"2015-07-30T00:00:00Z","timestamp":1438214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"High Throughput sequencing and rare disease"},{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,2]]},"abstract":"\n Infantile spasms syndrome (\n ISs<\/jats:styled-content>\n ) is characterized by clinical spasms with ictal electrodecrement, usually occurring before the age of 1 year and frequently associated with cognitive impairment. Etiology is widely heterogeneous, the cause remaining elusive in 40% of patients. We searched for\n de novo<\/jats:italic>\n mutations in 10 probands with\n ISs<\/jats:styled-content>\n and their parents using whole\u2010exome sequencing (\n WES<\/jats:styled-content>\n ). Patients had neither consanguinity nor family history of epilepsy. Common causes of\n ISs<\/jats:styled-content>\n were excluded by brain magnetic resonance imaging (\n MRI<\/jats:styled-content>\n ), metabolic screening, array\u2010comparative genomic hybridization (\n CGH<\/jats:styled-content>\n ) and testing for mutations in\n \n CDKL5<\/jats:styled-content>\n ,\n STXBP1<\/jats:styled-content>\n <\/jats:italic>\n , and for\n \n ARX<\/jats:styled-content>\n <\/jats:italic>\n duplications. We found a probably pathogenic mutation in four patients. Missense mutations in\n \n SCN2A<\/jats:styled-content>\n <\/jats:italic>\n (p.\n Leu1342Pro<\/jats:styled-content>\n ) and\n \n KCNQ2<\/jats:styled-content>\n <\/jats:italic>\n (p.\n Ala306Thr<\/jats:styled-content>\n ) were found in two patients with no history of epilepsy before the onset of\n ISs<\/jats:styled-content>\n . The p.\n Asn107Ser<\/jats:styled-content>\n missense mutation of\n \n ALG13<\/jats:styled-content>\n <\/jats:italic>\n had been previously reported in four females with\n ISs<\/jats:styled-content>\n . The fourth mutation was an in\u2010frame deletion (p.Phe110del) in\n \n NR2F1<\/jats:styled-content>\n <\/jats:italic>\n , a gene whose mutations cause intellectual disability, epilepsy, and optic atrophy. In addition, we found a possibly pathogenic variant in\n \n KIF3C<\/jats:styled-content>\n <\/jats:italic>\n that encodes a kinesin expressed during neural development. Our results confirm that\n WES<\/jats:styled-content>\n improves significantly the diagnosis yield in patients with sporadic\n ISs<\/jats:styled-content>\n .\n <\/jats:p>","DOI":"10.1111\/cge.12636","type":"journal-article","created":{"date-parts":[[2015,7,3]],"date-time":"2015-07-03T12:03:08Z","timestamp":1435924988000},"page":"198-204","source":"Crossref","is-referenced-by-count":79,"title":["Whole\u2010exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome"],"prefix":"10.1111","volume":"89","author":[{"given":"S.","family":"Dimassi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Lyon University Hospital Lyon France"},{"name":"CNRS UMR 5292, INSERM U1028 CNRL Lyon France"},{"name":"Claude Bernard Lyon I University University of Lyon Lyon France"},{"name":"Cytogenetics and Reproductive Biology Department Farhat Hached University Teaching Hospital Sousse Tunisia"},{"name":"Common Service Units for Research in Genetics, Faculty of Medicine of Sousse Avenue Mohamed Karoui, University of Sousse Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Labalme","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Ville","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Calender","sequence":"additional","affiliation":[{"name":"Claude Bernard Lyon I University University of Lyon Lyon France"},{"name":"Department of Molecular Genetics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Mignot","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence \u201cD\u00e9ficiences intellectuelles de causes rares\u201d AP\u2010HP, Groupe Hospitalier Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"Department of Pediatric Neurophysiology Amiens University Hospital Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Boutry\u2010Kryza","sequence":"additional","affiliation":[{"name":"CNRS UMR 5292, INSERM U1028 CNRL Lyon France"},{"name":"Claude Bernard Lyon I University University of Lyon Lyon France"},{"name":"Department of Molecular Genetics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"de Bellescize","sequence":"additional","affiliation":[{"name":"Epilepsy, Sleep and Pediatric Neurophysiology Department Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Rivier\u2010Ringenbach","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nord\u2010Ouest Hospital Villefranche\u2010sur\u2010Saone France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bourel\u2010Ponchel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurophysiology Amiens University Hospital Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Cheillan","sequence":"additional","affiliation":[{"name":"Claude Bernard Lyon I University University of Lyon Lyon France"},{"name":"Service des Maladies H\u00e9r\u00e9ditaires du m\u00e9tabolisme, INSERM U1060 Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Simonet","sequence":"additional","affiliation":[{"name":"Department of Cell Biotechnology, ENS Lyon Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Maincent","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, H\u00f4pital Trousseau Assistance Publique des H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Lyon University Hospital Lyon France"},{"name":"CNRS UMR 5292, INSERM U1028 CNRL Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Till","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Mougou\u2010Zerelli","sequence":"additional","affiliation":[{"name":"Cytogenetics and Reproductive Biology Department Farhat Hached University Teaching Hospital Sousse Tunisia"},{"name":"Common Service Units for Research in Genetics, Faculty of Medicine of Sousse Avenue Mohamed Karoui, University of Sousse 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