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A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces.

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Title: A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces.
Authors: Wu T; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn., He F; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn., Ni X; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn., Yin F; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn., Peng J; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.
Source: Human mutation [Hum Mutat] 2026 Jun 16; Vol. 2026, pp. 2799390. Date of Electronic Publication: 2026 Jun 16 (Print Publication: 2026).
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces.
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  Data: <searchLink fieldCode="AU" term="%22Wu+T%22">Wu T</searchLink>; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.<br /><searchLink fieldCode="AU" term="%22He+F%22">He F</searchLink>; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Ni+X%22">Ni X</searchLink>; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Yin+F%22">Yin F</searchLink>; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Peng+J%22">Peng J</searchLink>; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2026 Jun 16; Vol. 2026, pp. 2799390. <i>Date of Electronic Publication: </i>2026 Jun 16 (<i>Print Publication: </i>2026).
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        Value: 10.1155/humu/2799390
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      – Code: eng
        Text: English
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        StartPage: 2799390
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      – TitleFull: A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces.
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            NameFull: Wu T
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              Text: 2026 Jun 16
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              Y: 2026
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              Value: 2026
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