Varaico: Literature-Extracted Genetic Variants

Gene:GABRG2
Variant:p.P59fs
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GABRG2

NM_198904.4:p.P59fs

Associated Papers

GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.

Li X et al.

Journal of Translational Medicine, 2024

GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases.

Zhu X et al.

Journal of Child Neurology, 2024

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Maillard PY et al.

Epilepsia, 2022

35718920 (PubMed )
Supplement: EPI-63-2519-s001.xlsx › Feuil1

Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.

Yang Y et al.

Frontiers in Molecular Neuroscience, 2022

Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.

Komulainen-Ebrahim J et al.

Seizure, 2019

Novel GABRG2 mutations cause familial febrile seizures.

Boillot M et al.

Neurology. Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."