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. |
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| 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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| ISSN: | 1098-1004 |
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| DOI: | 10.1155/humu/2799390 |
