{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T20:12:41Z","timestamp":1791922361441,"version":"4.3.4"},"reference-count":54,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T00:00:00Z","timestamp":1759017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Developmental and Epileptic Encephalopathy (DEE) is a severe and heterogeneous neurological disorder in infancy\/early childhood. DEE\u2019s genetic and phenotypic variability complicates diagnosis and treatment. This retrospective study aimed to identify genetic variants and explore genotype\u2013phenotype correlations in children with DEE using a targeted epilepsy gene panel (TGP) and Whole Exome Sequencing (WES). Patients and Methods: Medical records of children who underwent custom-designed 55-gene TGP and WES were reviewed. The diagnostic yield of each method was determined based on the detection of pathogenic (P) and likely pathogenic (LP) variants. Results: A total of 129 patients (66 males, 63 females) underwent TGP, which identified P\/LP variants in 29 cases (22.48%). Variants were detected in SCN1A, KCNQ2, STXBP1, CDKL5, PCDH19, PLCB1, WWOX, SCN2A, FGF12, HCN1, SCN8A, and SLC35A2. WES further identified several variants in children with West syndrome. A TSC1 variant was detected in a patient without cutaneous stigmata of tuberous sclerosis complex. The NALCN variant in a patient was linked to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1. A CTBP1 variant associated with extremely rare Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome was detected in another patient. A PIEZO2 variant\u2014associated with Marden\u2013Walker syndrome\u2014was found in a child with Early Infantile Developmental and Epileptic Encephalopathy. Conclusions: These findings highlight the extensive genetic heterogeneity and phenotypic variability of DEE. WES demonstrates substantial value in identifying novel gene-disease associations and may be considered as a first-tier diagnostic tool in epilepsy and DEE.<\/jats:p>","DOI":"10.3390\/genes16101152","type":"journal-article","created":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T08:00:32Z","timestamp":1759132832000},"page":"1152","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9297-8222","authenticated-orcid":false,"given":"Deniz","family":"Sunnetci-Akkoyunlu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bulent","family":"Kara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5427-3811","authenticated-orcid":false,"given":"Tolgahan","family":"Ozer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9385-3787","authenticated-orcid":false,"given":"Adnan","family":"Deniz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayfer","family":"Sakarya-Gunes","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif Busra","family":"Isik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1138-7680","authenticated-orcid":false,"given":"Buket","family":"Dogruoglu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7256-6992","authenticated-orcid":false,"given":"Zeynep","family":"Ilkay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehtap","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery, University Hospital Erlangen, 91054 Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumeyye","family":"Sahin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seda","family":"Eren-Keskin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naci","family":"Cine","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakan","family":"Savli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1528-1167.2010.02522.x","article-title":"Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 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India"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/10\/1152\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T08:12:21Z","timestamp":1759133541000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/10\/1152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,28]]},"references-count":54,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2025,10]]}},"alternative-id":["genes16101152"],"URL":"https:\/\/doi.org\/10.3390\/genes16101152","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,28]]}}}