present in Gene: GABRB3
present in Chromosome: 15
Position on Chromosome: 26561149
Alleles of this Variant: G/A
rs1555401440 in
GABRB3 gene and
Dysmorphic features
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.
PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.
PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 28607477 2017 GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.
rs1555401440 in
GABRB3 gene and
Movement Disorders
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.
PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 28607477 2017 GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.
PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.
PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.
rs1555401440 in
GABRB3 gene and
Muscle hypotonia
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.
PMID 28607477 2017 GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.
PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.
PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.
PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.