Javascript must be enabled to continue!
Association Analysis of γ2 Subunit of γ-aminobutyric Acid (GABA) Type A Receptor and Voltage-gated Sodium Channel Type II α-polypeptide Gene Mutation in Southern Chinese Children With Febrile Seizures
View through CrossRef
We attempted to identify the prevalence of the R188W mutation of the SCN2A gene and the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRG2 gene in children of southern China who have febrile seizures. Neither mutation was found in our subjects. The single-nucleotide polymorphism rs211014 AA genotype was overrepresented in the febrile-seizures group compared with controls (62.4% vs 29.0%). The single-nucleotide polymorphism rs211014 A allele was higher in the febrile-seizures group ( P < .005). Compared with the single-nucleotide polymorphism rs211014 CC genotype, the odds ratio for developing febrile seizures in individuals with the single-nucleotide polymorphism rs211014 AA genotype was 4.05 ( P < .005). A new mutation of C-to-T transition was found at nucleotide 81719 of the GABRG2 gene in a 5-year-old boy, suggesting that the above mutations may not be the main disease mutations. The single-nucleotide polymorphism rs211014 A allele may predict susceptibility to febrile seizures.
Title: Association Analysis of γ2 Subunit of γ-aminobutyric Acid (GABA) Type A Receptor and Voltage-gated Sodium Channel Type II α-polypeptide Gene Mutation in Southern Chinese Children With Febrile Seizures
Description:
We attempted to identify the prevalence of the R188W mutation of the SCN2A gene and the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRG2 gene in children of southern China who have febrile seizures.
Neither mutation was found in our subjects.
The single-nucleotide polymorphism rs211014 AA genotype was overrepresented in the febrile-seizures group compared with controls (62.
4% vs 29.
0%).
The single-nucleotide polymorphism rs211014 A allele was higher in the febrile-seizures group ( P < .
005).
Compared with the single-nucleotide polymorphism rs211014 CC genotype, the odds ratio for developing febrile seizures in individuals with the single-nucleotide polymorphism rs211014 AA genotype was 4.
05 ( P < .
005).
A new mutation of C-to-T transition was found at nucleotide 81719 of the GABRG2 gene in a 5-year-old boy, suggesting that the above mutations may not be the main disease mutations.
The single-nucleotide polymorphism rs211014 A allele may predict susceptibility to febrile seizures.
Related Results
Modelling the spatial and temporal constrains of the GABAergic influence on neuronal excitability
Modelling the spatial and temporal constrains of the GABAergic influence on neuronal excitability
Abstract
GABA (γ-amino butyric acid) is an inhibitory neurotransmitter in the adult brain that can mediate depolarizing responses during developm...
Frequency of a Positive Cerebrospinal Fluid Study in Patients Presenting With Febrile Seizures
Frequency of a Positive Cerebrospinal Fluid Study in Patients Presenting With Febrile Seizures
Background: Febrile seizures are a common neurological condition in pediatric practice, affecting 2-5% of children globally. These seizures occur in the context of fever without ev...
Febrile seizures in an app-based children’s fever registry: (Preprint)
Febrile seizures in an app-based children’s fever registry: (Preprint)
BACKGROUND
Febrile seizures, although typically benign, can cause significant emotional distress for parents. Their diverse etiological risk factors undersc...
Perturbation of GABA Biosynthesis Links Cell Cycle to ControlArabidopsis thalianaLeaf Development
Perturbation of GABA Biosynthesis Links Cell Cycle to ControlArabidopsis thalianaLeaf Development
AbstractTo investigate the molecular mechanism underlying increasing leaf area in γ-Aminobutyric acid (GABA) biosynthetic mutants, the first pair of true leaves of GABA biosyntheti...
Vigabatrin
Vigabatrin
Summary: γ‐Aminobutyric acid (GABA) was first proposed as a putative inhibitory neurotransmitter by Elliot and van Gelder in 1958. Since then, numerous efforts have been made to f...
The Effect of Anti-Fatigue of mGluR4, GABA-ARα1 and GABA-BR1 on the Substantia Nigra Pars Reticular During Exercise
The Effect of Anti-Fatigue of mGluR4, GABA-ARα1 and GABA-BR1 on the Substantia Nigra Pars Reticular During Exercise
Objective: The substantia nigra pars reticular (SNR) is the vital nuclei sending out information from basal ganglia and it plays an important part in motor behavior maintenance and...
GABAergic system – physiological role and clinical significance
GABAergic system – physiological role and clinical significance
This work presents a review of the literature using the elibrary.ru, CyberLeninka, PubMed, Scopus and Google Scholar databases with the key terms “Gamma-aminobutyric acid (GABA)”, ...
En skvatmølle i Ljørring
En skvatmølle i Ljørring
A Horizontal Mill at Ljørring, Jutland.Horizontal water-mills have been in use in Jutland since the beginning of the Christian era 2). But the one here described shows so close a c...

