Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.
Veale EL et al.
Frontiers in Pharmacology, 2022
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C et al.
Human Mutation, 2020
Outer pore topology of the ECaC-TRPV5 channel by cysteine scan mutagenesis.
Dodier Y et al.
The Journal of Biological Chemistry, 2004
Influence of pore residues on permeation properties in the Kv2.1 potassium channel. Evidence for a selective functional interaction of K+ with the outer vestibule.
Consiglio JF et al.
The Journal of General Physiology, 2003
Oxidation of an engineered pore cysteine locks a voltage-gated K+ channel in a nonconducting state.
Zhang HJ et al.
Biophysical Journal, 1996
Multiple residues specify external tetraethylammonium blockade in voltage-gated potassium channels.
Pascual JM et al.
Biophysical Journal, 1995
Functional role of a conserved aspartate in the external mouth of voltage-gated potassium channels.
Kirsch GE et al.
Biophysical Journal, 1995
Side-chain accessibilities in the pore of a K+ channel probed by sulfhydryl-specific reagents after cysteine-scanning mutagenesis.
Kürz LL et al.
Biophysical Journal, 1995
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