Chun-Miao Wei1, Gui-Zhi Xia, Rong-Na Ren. 1. Department of Pediatrics, Fuzhou General Hospital, Clinical Medical College of Bengbu Medical University, Fuzhou 350025, China. 18020882187@163.com.
Abstract
OBJECTIVE: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE). METHODS: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents. RESULTS: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother. Among the 23 infants with gene mutations, 17 were found to have the gene mutations related to EE (among whom 14 had ion channel gene mutations), 2 had the gene mutations related to congenital inherited metabolic diseases, 2 had the gene mutations related to brain structural abnormality, and 2 had the gene mutations related to mental retardation. CONCLUSIONS: Unexplained infantile EE may have gene mutations, mainly ion channel gene mutations.
OBJECTIVE: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE). METHODS: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents. RESULTS: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother. Among the 23 infants with gene mutations, 17 were found to have the gene mutations related to EE (among whom 14 had ion channel gene mutations), 2 had the gene mutations related to congenital inherited metabolic diseases, 2 had the gene mutations related to brain structural abnormality, and 2 had the gene mutations related to mental retardation. CONCLUSIONS: Unexplained infantile EE may have gene mutations, mainly ion channel gene mutations.
Authors: Alexandre N Datta; Nadia Bahi-Buisson; Thierry Bienvenu; Sarah E Buerki; Fiona Gardiner; J Helen Cross; Bénédicte Heron; Anna Kaminska; Christian M Korff; Anne Lepine; Gaetan Lesca; Amy McTague; Heather C Mefford; Cyrill Mignot; Matthieu Milh; Amélie Piton; Ronit M Pressler; Susanne Ruf; Lynette G Sadleir; Anne de Saint Martin; Koen Van Gassen; Nienke E Verbeek; Dorothée Ville; Nathalie Villeneuve; Pia Zacher; Ingrid E Scheffer; Johannes R Lemke Journal: Epilepsia Date: 2021-01-07 Impact factor: 5.864