Article

Cross-species analysis of GNB1 I80T encephalopathy: conserved developmental, epileptic and neuronal transcriptome signatures

2026-08-07

Abstract excerpt

GNB1 encephalopathy (GNB1E) is a rare neurodevelopmental disorder caused by mutations in GNB1 gene encoding the G protein subunit Gβ1. Mechanisms linking these variants to neurological dysfunction remain unclear. We investigated the prevalent p.Ile80Thr (I80T) variant using combined clinical, cellular, and in vivo approaches. Longitudinal evaluation of a GNB1E patient revealed developmental delay, progressive per...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2cb7697a-47ab-5397-891d-d4f1192e5d7b
DOI: 10.64898/2026.08.03.742477

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cross-species analysis of GNB1 I80T encephalopathy: conserved developmental, epileptic and neuronal transcriptome signaturesDOI 10.64898/2026.08.03.742477Read

G protein-coupled potassium channels implicated in mouse and cellular models of GNB1 EncephalopathySemantic proximity Read

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Semantic proximity Read

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humansSemantic proximity Read

GIRK Channel Loss of Function Increases Dendritic Excitability in a Mouse Model of GNB1 EncephalopathySemantic proximity Read

Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?Semantic proximity Read

Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.Semantic proximity Read

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.Semantic proximity Read

Cognitive and Motor Dysfunction in STXBP1 R406H Mice.Semantic proximity Read

β-hydroxybutyrate improves convulsions in mice carrying the <i>GRIN1</i> Y647S/+ pathogenic variantSemantic proximity Read

Mouse Models Characterize GNAO1 Encephalopathy as a Neurodevelopmental Disorder Leading to Motor Anomalies: from a Severe G203R to a Milder C215Y MutationSemantic proximity Read

Spectrum of Movement Disorders in GNAO1 Encephalopathy: In-Depth Phenotyping and Case-by-Case AnalysisSemantic proximity Read

Longitudinal deep phenotyping in a mouse model of West syndrome reveals temporal dynamics of synapse remodeling, gliosis, and proteomic and lipidomic changes during seizure evolutionSemantic proximity Read