Katharine N. Gurba

GABRB3 Mutation, G32R, Associated with Childhood Absence Epilepsy Alters α1β3γ2L γ-Aminobutyric Acid Type A (GABAA) Receptor Expression and Channel Gating

Katharine N. Gurba, Ciria C. Hernández, Ningning Hu et al. · Journal of Biological Chemistry · 2012 · 62 citations · Full text

Gabrb3 Mutation, Molecular Neuroscience, Neurobiology Of Disease +10

GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G)

Emily J. Todd, Katharine N. Gurba, Emmanuel J. Botzolakis et al. · Neurobiology of Disease · 2014 · 43 citations · Full text

Synaptic Plasticity, Molecular Neuroscience, Developmental Biology +10

The <i>GABRA6</i> mutation, <i>R46W</i>, associated with childhood absence epilepsy, alters α6β2γ2 and α6β2δ GABA_Areceptor channel gating and expression

Ciria C. Hernández, Katharine N. Gurba, Ningning Hu et al. · The Journal of Physiology · 2011 · 41 citations · Full text

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

Ciria C. Hernández, Tara Klassen, Laurel G. Jackson et al. · PLoS ONE · 2016 · 34 citations · Full text

Gabr Genes, Genetics, Genetic Epidemiology +20

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1

Emmanuel J. Botzolakis, Jiali Zhao, Katharine N. Gurba et al. · Molecular and Cellular Neuroscience · 2010 · 30 citations

Protein Function, Natural Sciences, Molecular Biology +7