Spectrum of K V 2.1 Dysfunction in KCNB1 ‐Associated Neurodevelopmental Disorders

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations

(2018) Hui Huang et al.   Science Advances

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

(2017) Carolien G. F. de Kovel et al.   JAMA Neurology

Novel KCNB1 mutation associated with non-syndromic intellectual disability

(2016) Xénia Latypova et al.   JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

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 novel epileptic encephalopathy mutation inKCNB1disrupts Kv2.1 ion selectivity, expression, and localization

(2015) Isabelle Thiffault et al.   JOURNAL OF GENERAL PHYSIOLOGY

Distinct Cell- and Layer-Specific Expression Patterns and Independent Regulation of Kv2 Channel Subtypes in Cortical Pyramidal Neurons

(2015) H. I. Bishop et al.   JOURNAL OF NEUROSCIENCE

ClustVis: a web tool for visualizing clustering of multivariate data using Principal Component Analysis and heatmap

(2015) Tauno Metsalu et al.   NUCLEIC ACIDS RESEARCH

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

(2015) Hirotomo Saitsu et al.   Scientific Reports

De novoKCNB1mutations in epileptic encephalopathy

(2014) Ali Torkamani et al.   ANNALS OF NEUROLOGY

Deletion of the Kv2.1 delayed rectifier potassium channel leads to neuronal and behavioral hyperexcitability

(2014) D. J. Speca et al.   GENES BRAIN AND BEHAVIOR

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Protter: interactive protein feature visualization and integration with experimental proteomic data

(2013) Ulrich Omasits et al.   BIOINFORMATICS

Regulation of Kv2.1 K+ Conductance by Cell Surface Channel Density

(2013) P. D. Fox et al.   JOURNAL OF NEUROSCIENCE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

(2012) G. J. Swaminathan et al.   HUMAN MOLECULAR GENETICS

Kv2.1 cell surface clusters are insertion platforms for ion channel delivery to the plasma membrane

(2012) Emily Deutsch et al.   MOLECULAR BIOLOGY OF THE CELL

AMIGO is an auxiliary subunit of the Kv2.1 potassium channel

(2011) Marjaana A Peltola et al.   EMBO REPORTS

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

Mining recent brain proteomic databases for ion channel phosphosite nuggets

(2010) Oscar Cerda et al.   JOURNAL OF GENERAL PHYSIOLOGY

Regulation of the Kv2.1 Potassium Channel by MinK and MiRP1

(2009) Zoe A. McCrossan et al.   JOURNAL OF MEMBRANE BIOLOGY

Two Separate Interfaces between the Voltage Sensor and Pore Are Required for the Function of Voltage-Dependent K+ Channels

(2009) Seok-Yong Lee et al.   PLOS BIOLOGY