Qiong‐Xiang Zhai
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View article: SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature
SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature Open
Background The SLC2A1 gene plays a vital role in brain energy metabolism. SLC2A1 variants have been reported to be associated with early-onset refractory seizures. This study aims to explore the association between the SLC2A1 gene and late…
View article: CABP4 mutation in mice shows alteration in protein expression level and neuron discharge frequency
CABP4 mutation in mice shows alteration in protein expression level and neuron discharge frequency Open
The findings of this study suggest that the CABP4 p.G155D mutation might be one of the mechanisms underlying seizure onset.
View article: <i>ZFHX3</i>variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
<i>ZFHX3</i>variants cause childhood partial epilepsy and infantile spasms with favourable outcomes Open
Background The ZFHX3 gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation and neuronal death. This study aims to explore the relationship between ZFHX3 variants and epilepsy. Methods Whole-exome seq…
View article: Corrigendum: ATP6V0C is associated with febrile seizures and epilepsy with febrile seizures plus
Corrigendum: ATP6V0C is associated with febrile seizures and epilepsy with febrile seizures plus Open
[This corrects the article DOI: 10.3389/fnmol.2022.889534.].
View article: DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation
DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation Open
Background The DLG3 gene encodes disks large membrane-associated guanylate kinase scaffold protein 3, which plays essential roles in the clustering of N-methyl-D-aspartate receptors (NMDARs) at excitatory synapses. Previously, DLG3 has bee…
View article: <i>ZFHX3</i>variants cause childhood partial epilepsy and infantile spasms with favorable outcomes
<i>ZFHX3</i>variants cause childhood partial epilepsy and infantile spasms with favorable outcomes Open
Background The ZFHX3 gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation, and neuronal death. This study aims to explore the relationship between ZFHX3 variants and epilepsy. Methods Whole-exome se…
View article: <i>HCFC1</i> variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism
<i>HCFC1</i> variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism Open
Background HCFC1 encodes transcriptional co‐regulator HCF‐1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X‐linked cobalamin metabolism disorders and menta…
View article: Functional characterization of a KCNAB3 genetic epilepsy with febrile seizures plus adult mouse model
Functional characterization of a KCNAB3 genetic epilepsy with febrile seizures plus adult mouse model Open
These results suggest that the KCNAB3 mutation reduced hippocampal potassium currents in this mouse model.
View article: ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities
ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities Open
Objective ADGRV1 gene encodes adhesion G protein-coupled receptor-V1 that is involved in synaptic function. ADGRV1 mutations are associated with audio-visual disorders. Although previous experimental studies suggested that ADGRV1 variants …
View article: Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy Open
Objective The LAMA5 gene encodes the laminin subunit α5, the most abundant laminin α subunit in the human brain. It forms heterotrimers with the subunit β1/β2 and γ1/γ3 and regulates neurodevelopmental processes. Genes encoding subunits of…
View article: ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus Open
Purpose To identify novel genetic causes of febrile seizures (FS) and epilepsy with febrile seizures plus (EFS+). Methods We performed whole-exome sequencing in a cohort of 32 families, in which at least two individuals were affected by FS…
View article: Efficacy and safety of switching from brand-name to domestic generic levetiracetam in children with epilepsy.
Efficacy and safety of switching from brand-name to domestic generic levetiracetam in children with epilepsy. Open
Switching from brand-name to generic levetiracetam is safe and effective and holds promise for clinical application, but more prospective randomized controlled trials are required in future.
View article: A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4
A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4 Open
These results reveal that c.464G>A (p.G155D) in CaBP4 reduced the expression of CaBP4 by reducing the stability of the CaBP4 protein. Mutations in the CaBP4 gene may be associated with ADNFLE.
View article: Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders
Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders Open
Eleven variants were identified, including the variant in CREBBP, MECP2, HCFC1, ATRX, RAB39B, CLCN4, DYRK1A and CASK genes. The function areas result of gene-positive group were not significantly different from the gene-negative group.
View article: H258R mutation in <i>KCNAB3</i> gene in a family with genetic epilepsy and febrile seizures plus
H258R mutation in <i>KCNAB3</i> gene in a family with genetic epilepsy and febrile seizures plus Open
Purpose The aim of this was to discover disease‐causing gene mutations linked to genetic epilepsy with febrile seizures plus (GEFS+) in a family in the Southern Chinese Han population. Of a three‐generation pedigree of 18 members in this f…
View article: DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect
DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect Open
To explore the phenotype spectrum of DEPDC5 variants and the possible mechanisms underlying phenotypical variation, we performed targeted next-generation sequencing in 305 patients with focal epilepsies and 91 patients with generalized epi…
View article: Apigenin Protects the Brain against Ischemia/Reperfusion Injury via Caveolin‐1/VEGF In Vitro and In Vivo
Apigenin Protects the Brain against Ischemia/Reperfusion Injury via Caveolin‐1/VEGF In Vitro and In Vivo Open
Apigenin is a natural flavonoid found in several dietary plant foods as vegetables and fruits. To investigate potential anti‐ischemia/reperfusion injury properties of apigenin in vitro, cell proliferation assay, tube formation, cell migrat…
View article: Angiogenic effects of apigenin on endothelial cells after hypoxia-reoxygenation via the caveolin-1 pathway
Angiogenic effects of apigenin on endothelial cells after hypoxia-reoxygenation via the caveolin-1 pathway Open
In the present study, we aimed to elucidate whether apigenin contributes to the induction of angiogenesis and the related mechanisms in cell hypoxia-reoxygenation injury. The role of apigenin was examined in human umbilical vein endothelia…
View article: Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (<i>CABP4</i>) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy
Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (<i>CABP4</i>) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy Open
The aim of this study was to identify disease-causing gene mutations in a Chinese family affected with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a 4-generation pedigree of 27 members in the Southern Chinese Han populatio…