Article
A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.
BMC neurology - 23 Jan 2026
Zhang Qiang, Yang Qi, Zhou Xunzhao, Zhang Shujie, Ruan Yiyan, Luo Jingsi
Abstract excerpt
BACKGROUND: Developmental and epileptic encephalopathy-73 (DEE73, OMIM: #618379) is a rare autosomal dominant genetic disorder. This study reports a novel de novo RNF13 variant in a Chinese patient, aiming to assess its pathogenicity and expand understanding of the phenotypic and molecular spectrum of DEE73. METHODS: Whole-exome sequencing was performed on the patient to identify candidate variants associated...
Topics
- Humans
- Ubiquitin-Protein Ligases
- Genetic Association Studies
- Male
- Female
- Phenotype
- Epilepsy
- Exome Sequencing
- Developmental Disabilities