{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,7]],"date-time":"2026-06-07T17:34:33Z","timestamp":1780853673189,"version":"3.54.1"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We present the findings of a Whole Exome Sequencing in a 2-year-old boy, conceived via\n                    <jats:italic>In Vitro<\/jats:italic>\n                    Fertilization with donor sperm, who suffers from an undiagnosed neurological syndrome. The following heterozygous variant in the\n                    <jats:italic>EPHA4<\/jats:italic>\n                    gene was identified and classified as likely pathogenic: c.1655_1656, p.(Ser552CysfsTer23). Subsequent segregation analysis showed that the variant was not inherited from the mother and the sperm donor is not accessible for genetic testing. The presented results can further expand upon the genetic variants considered when diagnosing complex neurological syndromes and shows the importance of access to biological samples from donor banks in genetically ambiguous cases.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2023-0019","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T17:42:16Z","timestamp":1710265336000},"page":"65-68","source":"Crossref","is-referenced-by-count":1,"title":["<i>EPHA4<\/i>\n                    Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay"],"prefix":"10.2478","volume":"26","author":[{"given":"M","family":"Sleptsova","sequence":"first","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica\u201d , Sofia , Bulgaria"},{"name":"Department of Medical Chemistry and Biochemistry , Medical University Sofia , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Georgiev","sequence":"additional","affiliation":[{"name":"ULB Neuroscience Institute , Universit\u00e9 libre de Bruxelles (ULB) , Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Atemin","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica\u201d , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Dimova","sequence":"additional","affiliation":[{"name":"St. Ivan Rilski University Hospital , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Avdjieva-Tzavella","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , University Pediatric Hospital , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Tacheva","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Medical University of Sofia , Sofia , Bulgaria"},{"name":"Specialized Hospital for Active Treatment of Children\u2019s Diseases \u201cprof. Ivan Mitev\u201d , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Litvinenko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Medical University of Sofia , Sofia , Bulgaria"},{"name":"Specialized Hospital for Active Treatment of Children\u2019s Diseases \u201cprof. Ivan Mitev\u201d , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Grozdanova","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica\u201d , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Todorov","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica\u201d , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Mitev","sequence":"additional","affiliation":[{"name":"Department of Medical Chemistry and Biochemistry , Medical University Sofia , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Todorova","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica\u201d , Sofia , Bulgaria"},{"name":"Department of Medical Chemistry and Biochemistry , Medical University Sofia , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,3,12]]},"reference":[{"key":"2026042718353277359_j_bjmg-2023-0019_ref_001","doi-asserted-by":"crossref","unstructured":"Helbig, I. and Abou Tayoun, A. N. (2016) \u2018Understanding Genotypes and Phenotypes in Epileptic Encephalopathies\u2019, Molecular Syndromology, 7(4), pp. 172\u2013181.","DOI":"10.1159\/000448530"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_002","doi-asserted-by":"crossref","unstructured":"Light, T. P., Gomez-Soler, M., Wang, Z., Karl, K., Zapata-Mercado, E., Gehring, M. P., Lechtenberg, B. C., Pogorelov, T. V., Hristova, K. and Pasquale, E. B. (2021) \u2018A cancer mutation promotes EphA4 oligomerization and signaling by altering the conformation of the SAM domain\u2019, Journal of Biological Chemistry, 297(1), p. 100876.","DOI":"10.1016\/j.jbc.2021.100876"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_003","unstructured":"National Center for Biotechnology Information. Clin-Var (no date) [VCV000431727.1]."},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_004","doi-asserted-by":"crossref","unstructured":"Van Hoecke, A., Schoonaert, L., Lemmens, R., Timmers, M., Staats, K. A., Laird, A. S., Peeters, E., Philips, T., Goris, A., Dubois, B., et al. (2012) \u2018EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans\u2019, Nature Medicine, 18(9), pp. 1418\u20131422.","DOI":"10.1038\/nm.2901"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_005","doi-asserted-by":"crossref","unstructured":"Fu, A. K. Y., Hung, K.-W., Huang, H., Gu, S., Shen, Y., Cheng, E. Y. L., Ip, F. C. F., Huang, X., Fu, W.-Y. and Ip, N. Y. (2014) \u2018Blockade of EphA4 signaling ameliorates hippocampal synaptic dysfunctions in mouse models of Alzheimer\u2019s disease\u2019, Proceedings of the National Academy of Sciences, 111(27), pp. 9959\u20139964.","DOI":"10.1073\/pnas.1405803111"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_006","doi-asserted-by":"crossref","unstructured":"Goldshmit, Y. and Bourne, J. (2010) \u2018Upregulation of EphA4 on Astrocytes Potentially Mediates Astrocytic Gliosis after Cortical Lesion in the Marmoset Monkey\u2019, Journal of Neurotrauma, 27(7), pp. 1321\u20131332.","DOI":"10.1089\/neu.2010.1294"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_007","doi-asserted-by":"crossref","unstructured":"Miller, S. A., Dykes, D. D. and Polesky, H. F. (1988) \u2018A simple salting out procedure for extracting DNA from human nucleated cells\u2019, Nucleic Acids Research, 16(3), pp. 1215\u20131215.","DOI":"10.1093\/nar\/16.3.1215"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_008","doi-asserted-by":"crossref","unstructured":"Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) \u2018Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology\u2019, Genetics in Medicine, 17(5), pp. 405\u2013424.","DOI":"10.1038\/gim.2015.30"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_009","doi-asserted-by":"crossref","unstructured":"Wiel, L., Baakman, C., Gilissen, D., Veltman, J. A., Vriend, G. and Gilissen, C. (2019) \u2018MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains\u2019, Human Mutation, p. humu.23798.","DOI":"10.1101\/509935"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_010","doi-asserted-by":"crossref","unstructured":"Paysan-Lafosse, T., Blum, M., Chuguransky, S., Grego, T., Pinto, B. L., Salazar, G. A., Bileschi, M. L., Bork, P., Bridge, A., Colwell, L., et al. (2023) \u2018InterPro in 2022\u2019, Nucleic Acids Research, 51(D1), pp. D418\u2013D427.","DOI":"10.1093\/nar\/gkac993"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_011","doi-asserted-by":"crossref","unstructured":"Fuller, Z. L., Berg, J. J., Mostafavi, H., Sella, G. and Przeworski, M. (2019) \u2018Measuring intolerance to mutation in human genetics\u2019, Nature Genetics, 51(5), pp. 772\u2013776.","DOI":"10.1038\/s41588-019-0383-1"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_012","doi-asserted-by":"crossref","unstructured":"Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alf\u00f6ldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) \u2018The mutational constraint spectrum quantified from variation in 141,456 humans\u2019, Nature, 581(7809), pp. 434\u2013443.","DOI":"10.1530\/ey.17.14.3"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_013","doi-asserted-by":"crossref","unstructured":"Nagy, E. and Maquat, L. E. (1998) \u2018A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance\u2019, Trends in Biochemical Sciences, 23(6), pp. 198\u2013199.","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_014","doi-asserted-by":"crossref","unstructured":"Arvanitis, D. N. and Davy, A. (2012) \u2018Regulation and misregulation of Eph\/ephrin expression\u2019, Cell Adhesion & Migration, 6(2), pp. 131\u2013137.","DOI":"10.4161\/cam.19690"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_015","doi-asserted-by":"crossref","unstructured":"Sobreira, N., Schiettecatte, F., Valle, D. and Hamosh, A. (2015) \u2018GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene\u2019, Human Mutation, 36(10), pp. 928\u2013930.","DOI":"10.1002\/humu.22844"},{"key":"2026042718353277359_j_bjmg-2023-0019_ref_016","doi-asserted-by":"crossref","unstructured":"Oliver, K. L., Scheffer, I. E., Bennett, M. F., Grinton, B. E., Bahlo, M. and Berkovic, S. F. (2023) \u2018Genes4Epilepsy: An epilepsy gene resource\u2019, Epilepsia, 64(5), pp. 1368\u20131375.","DOI":"10.1111\/epi.17547"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2023-0019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T21:45:38Z","timestamp":1777326338000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2023-0019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,1]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,3,12]]},"published-print":{"date-parts":[[2023,12,1]]}},"alternative-id":["10.2478\/bjmg-2023-0019"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2023-0019","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,1]]}}}