Associated Papers
Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.
Li M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.
Tomás-Simó P et al.
Nephrology (carlton, Vic.), 2025
Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case-Control Study.
Alghamdi MA et al.
Medicina (kaunas, Lithuania), 2025
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.
Huang X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
Klarov LA et al.
International Journal of Molecular Sciences, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
Nadella RK et al.
Human Genomics, 2019
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Sajan SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
Sicca F et al.
Scientific Reports, 2016
The role of glial-specific Kir4.1 in normal and pathological states of the CNS.
Nwaobi SE et al.
Acta Neuropathologica, 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
Contribution of KCNJ10 gene polymorphisms in childhood epilepsy.
Dai AI et al.
Journal of Child Neurology, 2015
Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies.
Guo Y et al.
Plos One, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene.
Phani NM et al.
Gene, 2014
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.
Pique LM et al.
Peerj, 2014
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J et al.
Plos One, 2014
K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2013
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
Landa P et al.
Bmc Medical Genetics, 2013
Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.
Sicca F et al.
Neurobiology of Disease, 2011
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
Jonard L et al.
International Journal of Pediatric Otorhinolaryngology, 2010
Potassium channel activity and glutamate uptake are impaired in astrocytes of seizure-susceptible DBA/2 mice.
Inyushin M et al.
Epilepsia, 2010
Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy.
Heuser K et al.
Epilepsy Research, 2010
Inwardly rectifying potassium channels: their structure, function, and physiological roles.
Hibino H et al.
Physiological Reviews, 2010
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.
Shang L et al.
Brain Research. Molecular Brain Research, 2005
Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.
Bergren SK et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2005
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.
Lenzen KP et al.
Epilepsy Research, 2005
Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.
Buono RJ et al.
Epilepsy Research, 2004