The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs

A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever

(2015) Mario Van Poucke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Ensembl 2016

(2015) Andrew Yates et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants

(2015) Abhishek Niroula et al.   PLoS One

Canine Epilepsy: An Underutilized Model

(2014) E. E. Patterson   ILAR JOURNAL

A HomozygousKCNJ10Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

(2014) D. Gilliam et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

(2014) Jaroslav Bendl et al.   PLoS Computational Biology

Collective judgment predicts disease-associated single nucleotide variants

(2013) Emidio Capriotti et al.   BMC GENOMICS

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

(2013) J Helen Cross et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

(2013) F. Mahmood et al.   Disease Models & Mechanisms

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

(2013) Sophie Parrock et al.   NEPHRON PHYSIOLOGY

RefSeq: an update on mammalian reference sequences

(2013) Kim D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed

(2013) Oliver P. Forman et al.   PLoS One

Myokymia and neuromyotonia in veterinary medicine: A comparison with peripheral nerve hyperexcitability syndrome in humans

(2013) An E. Vanhaesebrouck et al.   VETERINARY JOURNAL

Unipro UGENE: a unified bioinformatics toolkit

(2012) Konstantin Okonechnikov et al.   BIOINFORMATICS

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

(2012) Jian Ye et al.   BMC BIOINFORMATICS

dbVar and DGVa: public archives for genomic structural variation

(2012) Ilkka Lappalainen et al.   NUCLEIC ACIDS RESEARCH

SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule

(2012) Ute I. Scholl et al.   PEDIATRIC NEPHROLOGY

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan’s syndrome and acquired neuromyotonia

(2010) Sarosh R. Irani et al.   BRAIN

Molecular Mechanisms of EAST/SeSAME Syndrome Mutations in Kir4.1 (KCNJ10)

(2010) Monica Sala-Rabanal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Myokymia and neuromyotonia in 37 Jack Russell terriers

(2010) Sofie F. Bhatti et al.   VETERINARY JOURNAL

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