Article

CONSTITUTIVE OPENING OF THE Kv7.2 PORE ACTIVATION GATE CAUSES <i>KCNQ2</i> -DEVELOPMENTAL ENCEPHALOPATHY

2024-05-21

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in KCNQ2 encoding for Kv7.2 voltage-gated potassium channel subunits cause developmental encephalopathies ( KCNQ2 -encephalopathies), both with and without epilepsy. We herein describe the clinical, in vitro and in silico features of two encephalopathy-causing variants (A317T, L318V) in Kv7.2 affecting two consecutive residues in the S 6 activation gate undergoing large...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 926d23ff-f4bd-5ea1-978e-2568bde907b2
DOI: 10.1101/2024.05.20.593680

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CONSTITUTIVE OPENING OF THE Kv7.2 PORE ACTIVATION GATE CAUSES <i>KCNQ2</i> -DEVELOPMENTAL ENCEPHALOPATHYDOI 10.1101/2024.05.20.593680Read

Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy.Semantic proximity Read

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.Semantic proximity Read

Molecular mechanism of partially open Kv7.2 gate stabilization by gain-of-function variantsSemantic proximity Read

Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression.Semantic proximity Read

Molecular dynamics of the pathogenic KCNQ2 variant G256W reveal mechanisms of channel dysfunction in epileptic encephalopathySemantic proximity Read

High throughput Characterization of <i>KCNB1</i> variants Associated with Developmental and Epileptic EncephalopathySemantic proximity Read

Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.Semantic proximity Read

Loss-of-function variants in the <i>KCNQ5</i> gene are associated with genetic generalized epilepsiesSemantic proximity Read

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.Semantic proximity Read

Plural molecular and cellular mechanisms of pore domain <i>KCNQ2</i> encephalopathySemantic proximity Read

Atomic-Level Investigation of <i>KCNJ2</i> Mutations Associated with Ventricular Arrhythmic Syndrome PhenotypesSemantic proximity Read

Electrophysiological signatures of a developmental delay in a stem cell model of <i>KCNQ2</i> developmental and epileptic encephalopathySemantic proximity Read