Associated Papers
The genetic and phenotypic spectrum of GABRB1-related disorders.
Millevert C et al.
Brain : a Journal of Neurology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1.
Wang L et al.
Frontiers in Pediatrics, 2024
GABRB1-related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation.
Monfrini E et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Identification of novel and de novo GABRB1 mutation in Chinese patient with developmental and epileptic encephalopathy 45.
Zhang S et al.
Intractable & Rare Diseases Research, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Zhu X et al.
Plos Genetics, 2017
29186148 (PubMed )
Supplement: pgen.1007104.s002.xlsx › S1_Table
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
Lien E et al.
Annals of Neurology, 2016
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
Janve VS et al.
Annals of Neurology, 2016
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