4.5 Review

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

Katrine M. Johannesen et al.

Summary: This study analyzed a large cohort of individuals with GABRB3 variants to investigate the phenotypic understanding and genotype-phenotype correlations. The results showed a wide spectrum of phenotypes associated with different structural locations of the variants. The genotype-phenotype correlations will aid in genetic counseling and treatment, and future studies may reveal functional differences underlying the phenotypic differences.

GENETICS IN MEDICINE (2022)

Article Clinical Neurology

Characterization of the GABRB2-Associated Neurodevelopmental Disorders

Christelle M. el Achkar et al.

Summary: The phenotypic spectrum of GABRB2-related epilepsy ranges broadly, from genetic generalized epilepsy to developmental and epileptic encephalopathies. Most individuals have pharmacoresistant epilepsy, with inconsistent response to medications targeting the GABAergic pathway. Developmental disability and movement disorder are key features.

ANNALS OF NEUROLOGY (2021)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Clinical Neurology

Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies

Nathan L. Absalom et al.

BRAIN COMMUNICATIONS (2020)

Review Neurosciences

A structural look at GABAA receptor mutations linked to epilepsy syndromes

Ciria C. Hernandez et al.

BRAIN RESEARCH (2019)

Article Genetics & Heredity

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen-Chen Anne Feng et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Multidisciplinary Sciences

Cryo-EM structure of the human α1β3γ2 GABAA receptor in a lipid bilayer

Duncan Laverty et al.

NATURE (2019)

Article Multidisciplinary Sciences

GABAA receptor signalling mechanisms revealed by structural pharmacology

Simonas Masiulis et al.

NATURE (2019)

Review Pharmacology & Pharmacy

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

Julia Oyrer et al.

PHARMACOLOGICAL REVIEWS (2018)

Article Clinical Neurology

De novo GABRG2 mutations associated with epileptic encephalopathies

Dingding Shen et al.

Article Clinical Neurology

Mutations in GABRB3 From febrile seizures to epileptic encephalopathies

Rikke S. Moller et al.

NEUROLOGY (2017)

Article Genetics & Heredity

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Fadi F. Hamdan et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Biochemical Research Methods

SIFT missense predictions for genomes

Robert Vaser et al.

NATURE PROTOCOLS (2016)

Article Clinical Neurology

De novo GABRA1 mutations in Ohtahara and West syndromes

Hirofumi Kodera et al.

EPILEPSIA (2016)

Article Medicine, Research & Experimental

Mechanisms of Action of Antiseizure Drugs and the Ketogenic Diet

Michael A. Rogawski et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2016)

Article Clinical Neurology

Rare variants in -aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Eva M. Reinthaler et al.

ANNALS OF NEUROLOGY (2015)

Article Genetics & Heredity

Novel GABRG2 mutations cause familial febrile seizures

Morgane Boillot et al.

NEUROLOGY-GENETICS (2015)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

Article Clinical Neurology

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

Gemma L. Carvill et al.

NEUROLOGY (2014)

Article Genetics & Heredity

De Novo Mutations in Moderate or Severe Intellectual Disability

Fadi F. Hamdan et al.

PLOS GENETICS (2014)

Article Neurosciences

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy

Pamela Lachance-Touchette et al.

EUROPEAN JOURNAL OF NEUROSCIENCE (2011)

Review Biotechnology & Applied Microbiology

Beyond classical benzodiazepines: novel therapeutic potential of GABAA receptor subtypes

Uwe Rudolph et al.

NATURE REVIEWS DRUG DISCOVERY (2011)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Genetics & Heredity

Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

RH Wallace et al.

NATURE GENETICS (2001)

Review Neurosciences

GABAB receptor:: A new paradigm in G protein signaling

A Couve et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2000)

Article Pharmacology & Pharmacy

The 'ABC' of GABA receptors

J Bormann

TRENDS IN PHARMACOLOGICAL SCIENCES (2000)