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Asp51Gly, was identified by whole exome sequencing in a Chinese family with ADLTE. The pathomechanism of the mutation was explored by generating\n \n Lgi1\n D51G<\/jats:sup>\n <\/jats:italic>\n knock\u2010in mice that precisely phenocopied the epileptic symptoms of human patients. The\n \n Lgi1\n D51G<\/jats:sup>\n <\/jats:italic>\n \/<\/jats:sup>\n \n D51G<\/jats:sup>\n <\/jats:italic>\n mice showed spontaneous recurrent generalized seizures and premature death. The\n \n Lgi1\n D51G<\/jats:sup>\n <\/jats:italic>\n \/+<\/jats:sup>\n mice had partial epilepsy, with half of them displaying epileptiform discharges on electroencephalography. They also showed enhanced sensitivity to the convulsant agent pentylenetetrazole. Mechanistically, the secretion of Lgi1 was impaired in the brain of the D51G knock\u2010in mice and the protein level was drastically reduced. Moreover, the antiepileptic drugs, carbamazepine, oxcarbazepine, and sodium valproate, could prolong the survival time of\n \n Lgi1\n D51G<\/jats:sup>\n <\/jats:italic>\n \/<\/jats:sup>\n \n D51G<\/jats:sup>\n <\/jats:italic>\n mice, and oxcarbazepine appeared to be the most effective.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n We identified a novel epilepsy\u2010causing mutation of\n LGI1<\/jats:italic>\n in humans. The\n \n Lgi1\n D51G<\/jats:sup>\n <\/jats:italic>\n \/+<\/jats:sup>\n mouse model, precisely phenocopying epileptic symptoms of human patients, could be a useful tool in future studies on the pathogenesis and potential therapies for epilepsy.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cns.13761","type":"journal-article","created":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T12:25:58Z","timestamp":1636719958000},"page":"237-246","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel\n LGI1<\/i>\n mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock\u2010in mouse model"],"prefix":"10.1111","volume":"28","author":[{"given":"Ping","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University Nanjing Maternity and Child Health care Hospital Nanjing 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