{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:38:42Z","timestamp":1792658322754,"version":"4.5.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T00:00:00Z","timestamp":1696464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T00:00:00Z","timestamp":1696464000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100015549","name":"VNU Science and Technology Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015549","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) and PEHO\u2010like syndromes are very rare infantile disorders characterized by profound intellectual disability, hypotonia, convulsions, optic, and progressive brain atrophy. Many causative genes for PEHO and PEHO\u2010like syndromes have been identified including\n                    <jats:italic>CCDC88A<\/jats:italic>\n                    . So far, only five patients from two unrelated families with biallelic\n                    <jats:italic>CCDC88A<\/jats:italic>\n                    variants have been reported in the literature\n                    <jats:italic>.<\/jats:italic>\n                    Herein, we describe a new family from Egypt with a lethal epileptic encephalopathy. Our patient was the youngest child born to a highly consanguineous couple and had a family history of five deceased sibs with the same condition. She presented with postnatal microcephaly, poor visual responsiveness, and epilepsy. Her brain MRI showed abnormal cortical gyration with failure of opercularization of the insula, hypogenesis of corpus callosum, colpocephaly, reduced white matter, hypoplastic vermis, and brain stem. Whole exome sequencing identified a new homozygous frameshift variant in\n                    <jats:italic>CCDC88A<\/jats:italic>\n                    gene (c.1795_1798delACAA, p.Thr599ValfsTer4). Our study presents the third reported family with this extremely rare disorder. We also reviewed all described cases to better refine the phenotypic spectrum associated with biallelic loss of function variants in the\n                    <jats:italic>CCDC88A<\/jats:italic>\n                    gene.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63425","type":"journal-article","created":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T01:44:43Z","timestamp":1696556683000},"page":"226-232","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Refining the phenotypic spectrum of\n                    <i>CCDC88A<\/i>\n                    \u2010related\n                    <scp>PEHO<\/scp>\n                    \u2010like syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3899-2821","authenticated-orcid":false,"given":"Mahmoud Y.","family":"Issa","sequence":"first","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona A.","family":"Hafez","sequence":"additional","affiliation":[{"name":"Radiology Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samir M.","family":"Mounir","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Minia University  Minia Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherif F.","family":"Abdel Ghafar","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7840-0002","authenticated-orcid":false,"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2480-0147","authenticated-orcid":false,"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-018-3626-5"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810396582"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001787"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx040"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201605"},{"key":"e_1_2_10_7_1","first-page":"186","article-title":"Infant spasm as first manifestation of PEHO\u2010like syndrome: A case report","volume":"145","author":"Casabianca M.","year":"2013","journal-title":"Bollettino\u2010Lega Italiana Contro 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