Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.
Liu Q et al.
Molecular Genetics & Genomic Medicine, 2025
Variants in RHOBTB2 associated with cancer and rare developmental and epileptic encephalopathy.
Solano E et al.
Frontiers in Pediatrics, 2024
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.
de Pedro Baena S et al.
Movement Disorders Clinical Practice, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana.
Defo A et al.
Molecular Genetics & Genomic Medicine, 2022
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Zagaglia S et al.
Neurology, 2021
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Belal H et al.
Human Mutation, 2018
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Straub J et al.
American Journal of Human Genetics, 2018
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