4.7 Article

Identification of a Novel Idiopathic Epilepsy Risk Locus and a Variant in the CCDC85A Gene in the Dutch Partridge Dog

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 Biochemistry & Molecular Biology

The European Variation Archive: a FAIR resource of genomic variation for all species

Timothe Cezard et al.

Summary: The European Variation Archive (EVA) is a resource for sharing genetic variation data for all species, hosting over 3 billion records. EVA and dbSNP have established a global system to assign unique identifiers to all submitted genetic variants. EVA is active within GA4GH, maintaining and implementing standards such as VCF, Refget, and VRS.

NUCLEIC ACIDS RESEARCH (2022)

Article Veterinary Sciences

Phenotypic Characterization of Idiopathic Epilepsy in Border Collies

Koen M. Santifort et al.

Summary: This retrospective study analyzed data of Border Collies with idiopathic epilepsy, revealing a correlation between the age of onset of the first epileptic seizure and the severity of epilepsy. The study also characterized the phenotype of idiopathic epilepsy in Border Collies and emphasized the significant impact of epilepsy on their quality of life.

FRONTIERS IN VETERINARY SCIENCE (2022)

Article Genetics & Heredity

Validation of a Chromosome 14 Risk Haplotype for Idiopathic Epilepsy in the Belgian Shepherd Dog Found to Be Associated with an Insertion in the RAPGEF5 Gene

Janelle M. Belanger et al.

Summary: A risk haplotype on CFA14 was found to interact with a common risk haplotype on CFA37 in Belgian shepherds, increasing the risk of idiopathic epilepsy. The ACTG haplotype on CFA14 and GG haplotype on CFA37 were associated with elevated risk, and a disruptive insertion in the RAPGEF5 gene adjacent to CFA14 haplotype was identified.
Article Veterinary Sciences

Phenotype of Idiopathic Epilepsy in Great Swiss Mountain Dogs in Germany-A Retrospective Study

Theresa Elisabeth Ostermann et al.

Summary: This study investigated the genetic predisposition and seizure characteristics of idiopathic epilepsy in Great Swiss Mountain Dogs. The results showed a high incidence of seizures in this breed, with a severe phenotype often characterized by cluster seizures and status epilepticus. The study provides valuable insights for further genetic evaluations and individualized treatment recommendations.

FRONTIERS IN VETERINARY SCIENCE (2022)

Review Medicine, Research & Experimental

Influence of glutamate and GABA transport on brain excitatory/inhibitory balance

Sheila M. S. Sears et al.

Summary: An optimally functional brain requires a regulated and balanced combination of excitatory and inhibitory inputs. Imbalance in this interplay, as seen in various neurological disorders and developmental disorders, can lead to dysfunctional signaling and impaired cognitive or motor function. The neurotransmitters glutamate and GABA play a key role in controlling this balance at the cellular level.

EXPERIMENTAL BIOLOGY AND MEDICINE (2021)

Article Genetics & Heredity

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

Marjo K. Hytonen et al.

Summary: The study investigated the clinical, genetic, and pathological characteristics of a severe juvenile brain disorder in Parson Russell Terriers. A novel early-onset PITRM1-related neurodegenerative canine brain disorder with mitochondrial dysfunction, A beta accumulation, and lethal epilepsy was described. The findings highlight the essential role of PITRM1 in neuronal survival and strengthen the connection between mitochondrial dysfunction and neurodegeneration.

HUMAN GENETICS (2021)

Article Genetics & Heredity

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Jacob R. Stolz et al.

Summary: Variants in the GRIK2 gene can lead to a neurodevelopmental disorder characterized by intellectual disability and developmental delay, with different outcomes depending on mono-allelic or bi-allelic effects. Shared GRIK2 variants among patients are associated with overlapping behavioral and neurological dysfunctions, indicating the pathogenic nature of these mutations. Functional studies on mutant GRIK2 variants in Kainate receptors reveal complex effects on receptor properties and contribute to a better understanding of the role of KARs in early nervous system development.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

Article Clinical Neurology

A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene

Yuichi Akaba et al.

Summary: Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. SPG4, the most common form of HSPs, is often associated with epilepsy and cognitive impairment. A combination of high-functioning drugs can effectively improve seizure symptoms and result in at least two years of seizure-free period for patients.

CASE REPORTS IN NEUROLOGY (2021)

Article Genetics & Heredity

Revisiting the genome-wide significance threshold for common variant GWAS

Zhongsheng Chen et al.

Summary: This study reassessed the genome-wide significance threshold in GWAS by comparing different multiple testing strategies. The findings suggest that relaxing the P-value threshold can increase discovery rates but also lead to higher false positive rates. FDR and Bayesian FDR are shown to be well controlled for different sample sizes in this context.

G3-GENES GENOMES GENETICS (2021)

Article Multidisciplinary Sciences

An atlas of the protein-coding genes in the human, pig, and mouse brain

Evelina Sjostedt et al.

SCIENCE (2020)

Review Genetics & Heredity

The Genetics of Epilepsy

Piero Perucca et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020 (2020)

Review Biochemistry & Molecular Biology

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment

Sarita Thakran et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Article Multidisciplinary Sciences

Identification of epilepsy-associated neuronal subtypes and gene expression underlying epileptogenesis

Ulrich Pfisterer et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Vikas Pejaver et al.

NATURE COMMUNICATIONS (2020)

Article Biochemical Research Methods

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Kymberleigh A. Pagel et al.

PLOS COMPUTATIONAL BIOLOGY (2019)

Article Neurosciences

Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function

Rachel Allison et al.

FRONTIERS IN NEUROSCIENCE (2019)

Article Clinical Neurology

Interaction among GRIK2 gene on epilepsy susceptibility in Chinese children

Shunjun Xiong et al.

ACTA NEUROLOGICA SCANDINAVICA (2019)

Review Neurosciences

Kainate Receptors: Role in Epilepsy

Rafael Falcon-Moya et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)

Article Veterinary Sciences

Seizure occurrence in dogs under primary veterinary care in the UK: prevalence and risk factors

Alexander Erlen et al.

JOURNAL OF VETERINARY INTERNAL MEDICINE (2018)

Article Multidisciplinary Sciences

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Franziska Wielaender et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Biochemical Research Methods

Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations

Bart J. G. Broeckx et al.

BMC BIOINFORMATICS (2017)

Review Clinical Neurology

Molecular Genetics of Epilepsy: A Clinician's Perspective

Vikas Dhiman

ANNALS OF INDIAN ACADEMY OF NEUROLOGY (2017)

Article Genetics & Heredity

ADAM23 is a common risk gene for canine idiopathic epilepsy

Lotta L. E. Koskinen et al.

BMC GENETICS (2017)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Article Biotechnology & Applied Microbiology

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

Lotta L. E. Koskinen et al.

BMC GENOMICS (2015)

Article Multidisciplinary Sciences

Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes

Bart J. G. Broeckx et al.

SCIENTIFIC REPORTS (2015)

Article Veterinary Sciences

Prevalence and risk factors for canine epilepsy of unknown origin in the UK

L. Kearsley-Fleet et al.

VETERINARY RECORD (2013)

Article Biochemical Research Methods

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction

Jian Ye et al.

BMC BIOINFORMATICS (2012)

Article Biochemistry & Molecular Biology

Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese

Youling Guo et al.

HUMAN MOLECULAR GENETICS (2012)

Article Genetics & Heredity

Genome-wide efficient mixed-model analysis for association studies

Xiang Zhou et al.

NATURE GENETICS (2012)

Article Multidisciplinary Sciences

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

Eija H. Seppala et al.

PLOS ONE (2012)

Article Multidisciplinary Sciences

Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi et al.

PLOS ONE (2012)

Review Neurosciences

Therapeutic Potential of Kainate Receptors

Carlos Matute

CNS NEUROSCIENCE & THERAPEUTICS (2011)

Article Veterinary Sciences

Epilepsy in the Petit Basset Griffon Vendeen: Prevalence, Semiology, and Clinical Phenotype

C. H. Gullov et al.

JOURNAL OF VETERINARY INTERNAL MEDICINE (2011)

Article Genetics & Heredity

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

Eija H. Seppala et al.

PLOS GENETICS (2011)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Biotechnology & Applied Microbiology

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

Erin L. Heinzen et al.

GENOME BIOLOGY (2007)

Article Infectious Diseases

A dual fluorescent multiprobe assay for prion protein genotyping in sheep

M Van Poucke et al.

BMC INFECTIOUS DISEASES (2005)

Article Multidisciplinary Sciences

Expanded repeat in canine epilepsy

H Lohi et al.

SCIENCE (2005)

Article Biochemistry & Molecular Biology

Extensive and breed-specific linkage disequilibrium in Canis familiaris

NB Sutter et al.

GENOME RESEARCH (2004)

Article Biochemistry & Molecular Biology

Mfold web server for nucleic acid folding and hybridization prediction

M Zuker

NUCLEIC ACIDS RESEARCH (2003)