Associated Papers
Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model.
Miyamoto S et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.
Langhammer F et al.
Human Molecular Genetics, 2025
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
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
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
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.pdf
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Zagaglia S et al.
Neurology, 2021
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.
Necpál J et al.
Parkinsonism & Related Disorders, 2020
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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