Associated Papers
Dosage effect of copy number variation in epilepsy and ten regions of the human brain.
De T et al.
Scientific Reports, 2025
Neuromodulation of voltage-gated sodium channels by Gβ1γ2 subunits: Implications for GNB1-linked encephalopathy.
Denomme N et al.
Neurobiology of Disease, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Ethosuximide: Subunit- and Gβγ-dependent blocker and reporter of allosteric changes in GIRK channels.
Shalomov B et al.
British Journal of Pharmacology, 2025
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.
Kava H et al.
Frontiers in Pediatrics, 2025
Loss of expression and function of Gβγ by GNB1 encephalopathy-associated L95P mutation of the Gβ1 subunit.
Reddy HP et al.
Frontiers in Pharmacology, 2025
GNB1 Encephalopathy: Clinical Case Report and Literature Review.
Nasvytis M et al.
Medicina (kaunas, Lithuania), 2024
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor.
Colombo S et al.
Frontiers in Cellular Neuroscience, 2023
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels.
Reddy HP et al.
Iscience, 2021
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C et al.
Diagnostics (basel, Switzerland), 2021
Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.
Lansdon LA et al.
American Journal of Medical Genetics. Part A, 2021
Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders.
Da Silva JD et al.
Frontiers in Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Schultz-Rogers L et al.
Molecular Genetics & Genomic Medicine, 2020
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P et al.
American Journal of Medical Genetics. Part A, 2018
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K et al.
Human Molecular Genetics, 2017
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S et al.
American Journal of Human Genetics, 2016
Neurons Are GIRKed in GNB1 Encephalopathy: Unraveling Pathogenic Mechanisms in a Complex Neurodevelopmental Disorder.
Wagnon JL
Epilepsy Currents, 0