De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum.

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Title: De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum.
Authors: Liang XY; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Meng XH; Department of Neurosurgery, Shenzhen University General Hospital, Shenzhen University, Shenzhen, China., Wu WC; Department of Neurosurgery, Shenzhen University General Hospital, Shenzhen University, Shenzhen, China., Guo J; Epilepsy Center, Guangdong 999 Brain Hospital, Guangzhou, China., Luo S; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Wang PY; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Zhang DM; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Lin ZS; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Liang JJ; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., He SL; Department of Pediatrics, Shantou Chaonan Minsheng Hospital, Shantou, China., Li BM; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Wang J; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Yi YH; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., He N; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Liao WP; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
Corporate Authors: China Epilepsy Gene 1.0 Project
Source: Epilepsia [Epilepsia] 2026 Feb; Vol. 67 (2), pp. 846-861. Date of Electronic Publication: 2025 Oct 27.
Publication Type: Journal Article
Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1528-1167
DOI:10.1111/epi.18695