Functional Analysis of Missense Mutations in Kv8.2 Causing Cone Dystrophy with Supernormal Rod Electroretinogram

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Electrically Silent Kv Subunits: Their Molecular and Functional Characteristics

(2012) Elke Bocksteins et al.   PHYSIOLOGY

Blockade of Permeation by Potassium but Normal Gating of the G628S Nonconducting hERG Channel Mutant

(2011) Zeineb Es-Salah-Lamoureux et al.   BIOPHYSICAL JOURNAL

‘Cone dystrophy with supranormal rod response’ in children

(2011) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

High-resolution optical coherence tomography imaging inKCNV2retinopathy

(2011) Panagiotis I Sergouniotis et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

(2011) Bernd Wissinger et al.   HUMAN MUTATION

Neurological Channelopathies

(2010) Dimitri M. Kullmann   Annual Review of Neuroscience

“CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM”: A COMPREHENSIVE GENOTYPE/PHENOTYPE STUDY INCLUDING FUNDUS AUTOFLUORESCENCE AND EXTENSIVE ELECTROPHYSIOLOGY

(2010) ANTHONY G. ROBSON et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Conserved Negative Charges in the N-terminal Tetramerization Domain Mediate Efficient Assembly of Kv2.1 and Kv2.1/Kv6.4 Channels

(2009) Elke Bocksteins et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

(2008) J. Fielding Hejtmancik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel KCNV2 Mutations in Cone Dystrophy with Supernormal Rod Electroretinogram

(2008) Safouane Ben Salah et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Mutation of Histidine 105 in the T1 Domain of the Potassium Channel Kv2.1 Disrupts Heteromerization with Kv6.3 and Kv6.4

(2008) Michael Mederos y Schnitzler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Removal of phospho-head groups of membrane lipids immobilizes voltage sensors of K+ channels

(2008) Yanping Xu et al.   NATURE