Associated Papers
The genetic and phenotypic spectrum of GABRB1-related disorders.
Millevert C et al.
Brain : a Journal of Neurology, 2025
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
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Absalom NL et al.
Brain Communications, 2020
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
Lien E et al.
Annals of Neurology, 2016
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