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

Induction of stable ER-plasma-membrane junctions by Kv2.1 potassium channels

(2015) P. D. Fox et al.   JOURNAL OF CELL SCIENCE

Subcellular Localization of K+ Channels in Mammalian Brain Neurons: Remarkable Precision in the Midst of Extraordinary Complexity

(2015) James S. Trimmer   NEURON

Tarantula toxins use common surfaces for interacting with Kv and ASIC ion channels

(2015) Kanchan Gupta et al.   eLife

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

De novoKCNB1mutations in epileptic encephalopathy

(2014) Ali Torkamani et al.   ANNALS OF NEUROLOGY

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

(2014) D.A. Dyment et al.   CLINICAL GENETICS

Clinical management of epileptic encephalopathies of childhood and infancy

(2014) Athanasios Covanis   Expert Review of Neurotherapeutics

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

A unique ion channel clustering domain on the axon initial segment of mammalian neurons

(2014) Anna N. King et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Cell type-specific spatial and functional coupling between mammalian brain Kv2.1 K+channels and ryanodine receptors

(2014) Danielle Mandikian et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Kv2 Channel Regulation of Action Potential Repolarization and Firing Patterns in Superior Cervical Ganglion Neurons and Hippocampal CA1 Pyramidal Neurons

(2014) P. W. Liu et al.   JOURNAL OF NEUROSCIENCE

Pharmacological chaperoning: A primer on mechanism and pharmacology

(2014) Nancy J. Leidenheimer et al.   PHARMACOLOGICAL RESEARCH

Polarized Axonal Surface Expression of Neuronal KCNQ Potassium Channels Is Regulated by Calmodulin Interaction with KCNQ2 Subunit

(2014) John P. Cavaretta et al.   PLoS One

Chemoselective tarantula toxins report voltage activation of wild-type ion channels in live cells

(2014) D. C. Tilley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

(2013) S. Weckhuysen et al.   NEUROLOGY

Genetics of early-onset epilepsy with encephalopathy

(2012) Rima Nabbout et al.   Nature Reviews Neurology

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Targeting F508del-CFTR to develop rational new therapies for cystic fibrosis

(2011) Zhi-wei Cai et al.   ACTA PHARMACOLOGICA SINICA

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Rescue of Mutated Cardiac Ion Channels in Inherited Arrhythmia Syndromes

(2010) Sadguna Y Balijepalli et al.   JOURNAL OF CARDIOVASCULAR PHARMACOLOGY

Axon initial segment dysfunction in epilepsy

(2010) Verena C. Wimmer et al.   JOURNAL OF PHYSIOLOGY-LONDON

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Localization-dependent activity of the Kv2.1 delayed-rectifier K+ channel

(2010) K. M. S. O'Connell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Kv2.1 K+ channel targets to the axon initial segment of hippocampal and cortical neurons in culture and in situ

(2009) Patrick D Sarmiere et al.   BMC NEUROSCIENCE

Potassium Channel Modulation by a Toxin Domain in Matrix Metalloprotease 23

(2009) Srikant Rangaraju et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Interactions between lipids and voltage sensor paddles detected with tarantula toxins

(2009) Mirela Milescu et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

How to Validate a Heteromeric Ion Channel Drug Target: Assessing Proper Expression of Concatenated Subunits: Figure 1.

(2008) Jon T. Sack et al.   JOURNAL OF GENERAL PHYSIOLOGY

Dynamic Regulation of the Kv2.1 Voltage-Gated Potassium Channel during Brain Ischemia through Neuroglial Interaction

(2008) H. Misonou et al.   JOURNAL OF NEUROSCIENCE