Publications by authors named "Wen-Jun Bian"
Article Synopsis
- Variants linked to immune-related disorders and seizures may also be related to common epilepsy, but their specific role and underlying mechanisms remain unclear.
- Trio-based whole-exome sequencing identified both de novo and biallelic missense variants in patients with generalized epilepsy following febrile seizures, with varying effects on seizure types and neurological outcomes based on the location of the variants.
- The study suggests a genotype-phenotype correlation, indicating that different variants can lead to distinct seizure presentations and neurological conditions, particularly emphasizing early onset and favorable outcomes in some patients.
CELSR1 variants are associated with partial epilepsy of childhood.
Am J Med Genet B Neuropsychiatr Genet
October 2022
Article Synopsis
- The CELSR1 gene, crucial for neurodevelopment and primarily expressed in neural stem cells, has been linked to partial epilepsy in a study of 356 unrelated cases.
- Variants of the CELSR1 gene were found in six cases, including both de novo and compound heterozygous mutations, with distinct phenotypic expressions for patients.
- The study suggests a significant correlation between CELSR1 variants and epilepsy, proposing it as a potential candidate pathogenic gene for childhood partial epilepsy.
Article Synopsis
- The BCOR gene, which helps regulate fetal development, has mutations linked to oculofaciocardiodental syndrome, but its role in neurological disorders, particularly epilepsy, is not well understood.
- Whole-exome sequencing of 323 epilepsy cases revealed seven missense variants of the BCOR gene, found in patients with partial epilepsy, some experiencing developmental delays, but all ultimately became seizure-free.
- The study suggests that BCOR may be a significant gene related to partial epilepsy, indicating a difference in mutation types between epilepsy and previous OFCD cases, potentially affecting the severity and characteristics of both conditions.
Article Synopsis
- The study focuses on a gene that encodes actin-binding proteins essential for brain function and its potential link to idiopathic epilepsy and Stocco dos Santos syndrome (SDSX).
- Researchers performed whole-exome sequencing on 320 epilepsy cases, discovering six specific missense variants primarily associated with idiopathic epilepsy and distinct from those linked to SDSX.
- These findings suggest that the gene may play a key role in idiopathic epilepsy without intellectual disability, indicating a possible correlation between genetic variants and the specific traits of the disorders.
Article Synopsis
- The study investigates the link between mutations in the voltage-gated calcium channel subunit alpha1 A gene and various forms of epilepsy, particularly focusing on the genetic basis behind paroxysmal disorders like episodic ataxia type 2.
- Researchers utilized whole-exome sequencing on 318 partial epilepsy cases and 150 generalized epilepsy cases, identifying 12 mutations across ten unrelated epilepsy patients, with several categorized as pathogenic.
- Results indicate that certain mutations, especially null mutations, are more frequent in episodic ataxia type 2 compared to epilepsy, and specific missense mutations correlate with more severe seizure phenotypes.
To characterize human leukocyte antigen (HLA) loci as risk factors in aromatic antiepileptic drug-induced maculopapular exanthema (AED-MPE). A case-control study was performed to investigate HLA loci involved in AED-MPE in a southern Han Chinese population. Between January 2007 and June 2019, 267 patients with carbamazepine (CBZ), oxcarbazepine (OXC), or lamotrigine (LTG) associated MPE and 387 matched drug-tolerant controls from six centers were enrolled.
View Article and Find Full Text PDFThe unc-13 homolog B (UNC13B) gene encodes a presynaptic protein, mammalian uncoordinated 13-2 (Munc13-2), which is highly expressed in the brain-predominantly in the cerebral cortex-and plays an essential role in synaptic vesicle priming and fusion, potentially affecting neuronal excitability. However, the functional significance of the UNC13B mutation in human disease is not known. In this study, we screened for novel genetic variants in a cohort of 446 unrelated cases (families) with partial epilepsy without acquired causes by trio-based whole-exome sequencing.
View Article and Find Full Text PDFArticle Synopsis
- Idiopathic focal epilepsy (IFE) is a type of epilepsy with unknown causes, prompting researchers to investigate genetic variants associated with it in a study involving 323 patients.
- * Whole-exome sequencing revealed four novel genetic variants connected to IFE, including one truncating variant and three missense variants, all of which were unique and not previously recorded.
- * The findings suggest a link between these genetic mutations and different types of epilepsy, with implications for understanding the severity of symptoms based on genetic factors.*
Article Synopsis
- * Researchers screened for TPP1 mutations in 330 epilepsy patients and noted a specific mutation in one family that led to seizures without other common symptoms.
- * The study found that certain types of mutations were more prevalent in specific conditions, suggesting a connection between the severity of symptoms (phenotype) and the nature of the mutations (genotype), pointing to the importance of genetic testing in epilepsy treatment.
Article Synopsis
- The study investigates the relationship between autism spectrum disorder (ASD) and Lennox-Gastaut syndrome (LGS), finding that while LGS patients exhibit some autistic behaviors, none fully met the ASD criteria, unlike those with Dravet syndrome (DS), which had a significant ASD prevalence.* -
- Both LGS and DS patients showed similar rates and severity of intellectual disability (ID), but the incidence of ASD was much lower in LGS (0%) compared to DS (22.2%).* -
- The findings suggest that the presence of ASD in relation to epilepsy and ID is influenced by various complex factors, contradicting the notion that ID solely drives the prevalence of ASD in epilepsy cases.*
Article Synopsis
- The SCN1A gene is crucial for epilepsy research, with numerous point mutations found in its coding regions, but recent studies are starting to investigate its noncoding regions as well.
- A specific heterozygous mutation (h1u-1962 T > G) was discovered in a patient suffering from partial epilepsy and febrile seizures, inherited from an asymptomatic mother and not present in healthy controls.
- This mutation reduces promoter activity significantly, leading to milder epilepsy symptoms, and highlights the need for further clinical focus on noncoding mutations that could influence the gene's expression and treatment outcomes.