{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T02:17:02Z","timestamp":1789265822560,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,6,9]],"date-time":"2022-06-09T00:00:00Z","timestamp":1654732800000},"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":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Epileptic encephalopathy (EE) refers to a heterogeneous group of epilepsy syndromes characterized by seizures as well as encephalopathies, leading to cognitive and behavioral disturbances. These conditions vary in their age at onset, their severity, and their electroencephalographic patterns. Whereas genetic factors are involved in approximately 40% of all epilepsy cases, they contribute to 80% of early infantile EEs (EIEEs), with approximately 125 genes previously linked to this disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole exome sequencing (WES) was performed in a 9\u2010month\u2010old Lebanese girl presenting with EIEE.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>WES enabled the detection of a homozygous missense mutation in the <jats:italic>NECAP1<\/jats:italic> gene (NM_015509.3: p.Glu8Lys) in the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Here, we report the first homozygous missense mutation in the <jats:italic>NECAP1<\/jats:italic> gene in a 9\u2010month\u2010old girl presenting with EIEE. Our findings allow a better characterization of the <jats:italic>NECAP1<\/jats:italic>\u2010linked disease and enable broadening its clinical spectrum by including, in addition to EIEE, severe generalized hypotonia, poor feeding, developmental delay, severe microcephaly, delayed myelination, abnormalities of the corpus callosum, and eye abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15424","type":"journal-article","created":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T08:39:52Z","timestamp":1653986392000},"page":"2486-2492","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Early infantile epileptic encephalopathy related to <scp><i>NECAP1<\/i><\/scp>: Clinical delineation of the disease and review"],"prefix":"10.1111","volume":"29","author":[{"given":"Eliane","family":"Chouery","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Byblos Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cybel","family":"Mehawej","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Byblos Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Sabbagh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics H\u00f4tel Dieu de France Hospital  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamal","family":"Bleik","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Lebanese American University Medical Center  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-2469","authenticated-orcid":false,"given":"Andre","family":"Megarbane","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Byblos Lebanon"},{"name":"J\u00e9r\u00f4me Lejeune Institute  Paris 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