article_metadata: Qian Liu Feifei Li Qin Ruan Nana Wang Zhengjun Fan
article_metadata: 10.1002/mgg3.70059
article_metadata: Mol Genet Genomic Med
article_metadata: 2025 Jan;13(1):e70059.
article_metadata: rhobtb2 dee64 developmental and epileptic encephalopathies hotspot variant
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39831600/
article_metadata: Epilepsy / genetics Epilepsy / pathology
article_metadata: Epilepsy / genetics Epilepsy / pathology Case Reports GTP-Binding Proteins Humans Infant Male Mutation, Missense Tumor Suppressor Proteins / genetics RHOBTB2 protein, human Tumor Suppressor Proteins GTP-Binding Proteins
article_metadata: PMC11744465
article_metadata: 39831600
article_metadata: RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis
article_metadata: 2025