Associated Papers
Dosage effect of copy number variation in epilepsy and ten regions of the human brain.
De T et al.
Scientific Reports, 2025
41345172 (PubMed )
Supplement: 41598_2025_28338_MOESM2_ESM.xlsx › SNPs
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
Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.
Tsuji M et al.
Brain & Development, 2023
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A et al.
Prenatal Diagnosis, 2022
35574990 (PubMed )
Supplement: supplement_1.xlsx › paper
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
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.
Endo W et al.
Brain & Development, 2020
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
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
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