{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:40:09Z","timestamp":1753890009323,"version":"3.41.2"},"reference-count":13,"publisher":"IMR Press","issue":"2","license":[{"start":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Integr. Neurosci."],"abstract":"<jats:p>Epilepsy is a common heterogeneous group of neurological disorders including electroencephalographic and brain imaging. We used whole exome sequencing and whole genome sequencing to identify variants in a pedigree associated with epilepsy. Cranium CT scan showed that the lateral right parietal lobe was hyperdense, and there were no clear boundaries with brain tissue in affected cases. Using WES, one exclusive nonsynonymous mutant in gene TSC2 (Chr16:2138307; c.5240 T &gt; G; p.Ile1747Ser) was involved in this disease. Further analysis showed that de novo variant in TSC2 was high conserved across different species. Moreover, the two affected sisters and their father had the same compound heterozygous variants in TSC2, while the father had no epilepsy but depigmentation. These variants demonstrated that variant in TSC2 may result in epilepsy with incomplete penetrance in humans, and the CNV and SV variants we identified probably be involved in this disease.<\/jats:p>","DOI":"10.31083\/j.jin2002039","type":"journal-article","created":{"date-parts":[[2021,7,5]],"date-time":"2021-07-05T05:04:01Z","timestamp":1625461441000},"source":"Crossref","is-referenced-by-count":1,"title":["Identification of genetic variants in a pedigree associated with epilepsy by using whole exome sequencing and whole genome sequencing"],"prefix":"10.31083","volume":"20","author":[{"given":"Qin-Qin","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology, Huaihe Hospital of Henan University, 475000 Kaifeng, Henan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zi-Hua","family":"Wang","sequence":"first","affiliation":[{"name":"School of Pharmacy, Henan University, 475000 Kaifeng, Henan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun-Shi","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology, Huaihe Hospital of Henan University, 475000 Kaifeng, Henan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun-Nan","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Neurology, Huaihe Hospital of Henan University, 475000 Kaifeng, Henan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu-Hong","family":"Lin","sequence":"first","affiliation":[{"name":"Translational Medicine Center, Huaihe Hospital of Henan University, 475000 Kaifeng, Henan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"An","sequence":"first","affiliation":[{"name":"Translational Medicine Center, Huaihe Hospital of Henan University, 475000 Kaifeng, Henan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"16242","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nature Reviews Neurology. 2010; 6: 445\u2013453.","DOI":"10.1038\/nrneurol.2010.92"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Wang J, Lin Z, Liu L, Xu H, Shi Y, Yi Y, et al. Epilepsy-associated genes. Seizure. 2017; 44: 11\u201320.","DOI":"10.1016\/j.seizure.2016.11.030"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"International League Against Epilepsy Consortium on Complex Epilepsies. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. The Lancet Neurology. 2014; 13: 893\u2013903.","DOI":"10.1016\/S1474-4422(14)70171-1"},{"key":"ref4","doi-asserted-by":"crossref","unstructured":"Kwiatkowski DJ, Manning BD. Molecular basis of giant cells in tuberous sclerosis complex. The New England Journal of Medicine. 2014; 371: 778\u2013780.","DOI":"10.1056\/NEJMcibr1406613"},{"key":"ref5","doi-asserted-by":"crossref","unstructured":"Yuan H, Yan K, Hou D, Zhang Z, Wang H, Wang X, et al. Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. Medicine. 2017; 96: e7727.","DOI":"10.1097\/MD.0000000000007727"},{"key":"ref6","doi-asserted-by":"crossref","unstructured":"Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics. 2011; 12: 745\u2013755.","DOI":"10.1038\/nrg3031"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Caban C, Khan N, Hasbani DM, Crino PB. Genetics of tuberous sclerosis complex: implications for clinical practice. 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Proceedings of the National Academy of Sciences of the United States of America. 2015; 112: 5473\u20135478.","DOI":"10.1073\/pnas.1418631112"},{"key":"ref11","doi-asserted-by":"crossref","unstructured":"Pinosio S, Giacomello S, Faivre-Rampant P, Taylor G, Jorge V, Le Paslier MC, et al. Characterization of the poplar pan-genome by genome-wide identification of structural variation. Molecular Biology and Evolution. 2016; 33: 2706\u20132719.","DOI":"10.1093\/molbev\/msw161"},{"key":"ref12","doi-asserted-by":"crossref","unstructured":"Dhokarh D, Abyzov A. Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis. Genome Research. 2016; 26: 874\u2013881.","DOI":"10.1101\/gr.205484.116"},{"key":"ref13","doi-asserted-by":"crossref","unstructured":"Pirooznia M, Goes FS, Zandi PP. Whole-genome CNV analysis: advances in computational approaches. Frontiers in Genetics. 2015; 6: 138.","DOI":"10.3389\/fgene.2015.00138"}],"container-title":["Journal of Integrative Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.imrpress.com\/journal\/JIN\/20\/2\/10.31083\/j.jin2002039","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T15:28:58Z","timestamp":1732721338000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.imrpress.com\/journal\/JIN\/20\/2\/10.31083\/j.jin2002039"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,30]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021]]}},"alternative-id":["1625014735190-397105063"],"URL":"https:\/\/doi.org\/10.31083\/j.jin2002039","relation":{},"ISSN":["0219-6352","1757-448X"],"issn-type":[{"type":"print","value":"0219-6352"},{"type":"electronic","value":"1757-448X"}],"subject":[],"published":{"date-parts":[[2021,6,30]]},"article-number":"393"}}