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Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever.

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Title: Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever.
Authors: Guo W; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China., Song D; Department of Pharmacology, School of Pharmacy, Fourth Military Medical University, Xi'an, China.; State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Diseases, Shaanxi International Joint Research Center for Oral Diseases, Department of Pharmacy, School of Stomatology, Fourth Military Medical University, Xi'an, China., Cheng K; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China., Wang C; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China., Wang Y; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China., Yang X; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China., Lin Y; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China., Jiang X; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China., Liu X; Honghui Hospital, Xi'an Jiaotong University, Xi'an, China., Lan L; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
Source: Frontiers in genetics [Front Genet] 2026 May 21; Vol. 17, pp. 1841342. Date of Electronic Publication: 2026 May 21 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever.
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  Data: <searchLink fieldCode="AU" term="%22Guo+W%22">Guo W</searchLink>; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Song+D%22">Song D</searchLink>; Department of Pharmacology, School of Pharmacy, Fourth Military Medical University, Xi'an, China.; State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Diseases, Shaanxi International Joint Research Center for Oral Diseases, Department of Pharmacy, School of Stomatology, Fourth Military Medical University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Cheng+K%22">Cheng K</searchLink>; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Wang+C%22">Wang C</searchLink>; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Yang+X%22">Yang X</searchLink>; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Lin+Y%22">Lin Y</searchLink>; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Jiang+X%22">Jiang X</searchLink>; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Liu+X%22">Liu X</searchLink>; Honghui Hospital, Xi'an Jiaotong University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Lan+L%22">Lan L</searchLink>; Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fgene.2026.1841342
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        Text: English
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              Text: 2026 May 21
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