Common Variants of KCNJ10 Are Associated with Susceptibility and Anti-Epileptic Drug Resistance in Chinese Genetic Generalized Epilepsies

Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene

(2014) Nagaraja M. Phani et al.   GENE

Expressional analysis of the astrocytic Kir4.1 channel in a pilocarpine–induced temporal lobe epilepsy model

(2013) Yuki Nagao et al.   Frontiers in Cellular Neuroscience

MirSNP, a database of polymorphisms altering miRNA target sites, identifies miRNA-related SNPs in GWAS SNPs and eQTLs

(2012) Chenxing Liu et al.   BMC GENOMICS

ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients

(2012) Jian Qu et al.   CNS Neuroscience & Therapeutics

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

(2012) et al.   HUMAN MOLECULAR GENETICS

Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studies

(2011) David A. Greenberg et al.   EPILEPSIA

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

(2011) Federico Sicca et al.   NEUROBIOLOGY OF DISEASE

Gene-wide tagging study of the association betweenABCC2,ABCC5andABCG2genetic polymorphisms and multidrug resistance in epilepsy

(2011) Patrick Kwan et al.   PHARMACOGENOMICS

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

(2010) Dalia Kasperavičiūtė et al.   BRAIN

The Epilepsy Genetic Association Database (epiGAD): Analysis of 165 genetic association studies, 1996-2008

(2010) Nigel C. K. Tan et al.   EPILEPSIA

Potassium channel activity and glutamate uptake are impaired in astrocytes of seizure-susceptible DBA/2 mice

(2010) Mikhail Inyushin et al.   EPILEPSIA

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

(2010) M. Reichold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

Genetic mechanisms in idiopathic epilepsies

(2009) Yvonne G Weber et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy

(2009) Kjell Heuser et al.   EPILEPSY RESEARCH

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

(2009) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The clinical impact of pharmacogenetics on the treatment of epilepsy

(2008) Wolfgang Löscher et al.   EPILEPSIA