{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T17:29:03Z","timestamp":1777742943667,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:00Z","timestamp":1701129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Nitrogen permease regulator\u2010like 3 (<jats:italic>NPRL3<\/jats:italic>) has been reported to play a role in seizure onset. The principal manifestation of <jats:italic>NPRL3<\/jats:italic>\u2010related epilepsy is a range of epilepsy\u2010associated syndromes, such as familial focal epilepsy with variable foci (FFEVF), sleep\u2010related hypermotor epilepsy (SHE), and temporal lobe epilepsy (TLE). The association between phenotype and genotype of <jats:italic>NPRL3<\/jats:italic> mutations remains inadequately described. This study aimed to explore the phenotypic and genotypic spectra of <jats:italic>NPRL3<\/jats:italic>\u2010related epilepsy. We reported two novel <jats:italic>NPRL3<\/jats:italic> variants in two unrelated epilepsy cases, including a nonsense (c.1174C\u2009&gt;\u2009T, p.Gln392*) and a missense variant (c.1322C\u2009&gt;\u2009T, p.Thr441Met). Following a review of the literature, a total of 116 cases of <jats:italic>NPRL3<\/jats:italic>\u2010related epilepsy were assessed, mostly with nonsense and frameshift mutations. Our findings suggest that patients harboring various <jats:italic>NPRL3<\/jats:italic> variants exhibit variable clinical manifestations. In addition, it may be worthwhile to consider the <jats:italic>NPRL3<\/jats:italic> mutations in epilepsy patients with a family history. This study provides useful information for the treatment and prognosis by expanding the phenotypic and genotypic spectrum of <jats:italic>NPRL3<\/jats:italic>\u2010related epilepsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Plain Language Summary<\/jats:title><jats:p>This study expands the phenotypic and genotypic spectra of NPRL3\u2010related epilepsy by reporting two cases with different novel variants. Following a review of the literature, it was observed that patients harboring various NPRL3 variants exhibited a variability of clinical manifestations. Also, patients carrying nonsense mutations are frequently prone to drug resistance and other severe comorbidities such as developmental delay, but more cases need to be collected to confirm these findings.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.12856","type":"journal-article","created":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T10:47:43Z","timestamp":1698662863000},"page":"33-40","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Phenotypic and genotypic characterization of <i>NPRL3<\/i>\u2010related epilepsy: Two case reports and literature review"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8107-1625","authenticated-orcid":false,"given":"Dongling","family":"Yang","sequence":"first","affiliation":[{"name":"Ruikang Clinical Medical College Guangxi University of Chinese Medicine  Nanning China"},{"name":"Department of Pediatric Neurology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Guangxi Clinical Research Center for Pediatric Diseases  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinqiu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Guangxi Clinical Research Center for Pediatric Diseases  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zailong","family":"Qin","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Precision Medicine for Genetic Diseases Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"},{"name":"Genetic and Metabolic Central Laboratory Guangxi Birth Defects Research and Prevention Institute  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juntan","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Guangxi Clinical Research Center for Pediatric Diseases  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengyun","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Guangxi Clinical Research Center for Pediatric Diseases  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuyi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Guangxi Clinical Research Center for Pediatric Diseases  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuelin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Guangxi Clinical Research Center for Pediatric Diseases  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0857-196X","authenticated-orcid":false,"given":"Yiyan","family":"Ruan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Guangxi Clinical Research Center for Pediatric Diseases  Nanning China"},{"name":"Guangxi Key Laboratory of Precision Medicine for Genetic Diseases Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning 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