BK Channelopathies and KCNMA1-Linked Disease Models
AL Meredith - Annual Review of Physiology, 2024 - annualreviews.org
Novel KCNMA1 variants, encoding the BK K+ channel, are associated with a debilitating
dyskinesia and epilepsy syndrome. Neurodevelopmental delay, cognitive disability, and …
dyskinesia and epilepsy syndrome. Neurodevelopmental delay, cognitive disability, and …
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy
JP Miller, HJ Moldenhauer, S Keros, AL Meredith - Channels, 2021 - Taylor & Francis
ABSTRACT KCNMA1-linked channelopathy is an emerging neurological disorder
characterized by heterogeneous and overlapping combinations of movement disorder …
characterized by heterogeneous and overlapping combinations of movement disorder …
BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models
KCNMA1 forms the pore of BK K+ channels, which regulate neuronal and muscle
excitability. Recently, genetic screening identified heterozygous KCNMA1 variants in a …
excitability. Recently, genetic screening identified heterozygous KCNMA1 variants in a …
Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia
A growing number of gain-of-function (GOF) BK channelopathies have been identified in
patients with epilepsy and movement disorders. Nevertheless, the underlying …
patients with epilepsy and movement disorders. Nevertheless, the underlying …
[HTML][HTML] VSI: The Anoctamins: Structure and Function:“Intracellular” anoctamins
K Kunzelmann, J Ousingsawat, R Schreiber - Cell Calcium, 2024 - Elsevier
Plasma membrane localized anoctamin 1, 2 and 6 (TMEM16A, B, F) have been examined in
great detail with respect to structure and function, but much less is known about the other …
great detail with respect to structure and function, but much less is known about the other …
Modulation of a critical period for motor development in Drosophila by BK potassium channels
Critical periods are windows of heightened plasticity occurring during neurodevelopment.
Alterations in neural activity during these periods can cause long-lasting changes in the …
Alterations in neural activity during these periods can cause long-lasting changes in the …
An allosteric modulator activates BK channels by perturbing coupling between Ca2+ binding and pore opening
BK type Ca2+-activated K+ channels activate in response to both voltage and Ca2+. The
membrane-spanning voltage sensor domain (VSD) activation and Ca2+ binding to the …
membrane-spanning voltage sensor domain (VSD) activation and Ca2+ binding to the …
Targeting ion channels and Purkinje neuron intrinsic membrane excitability as a therapeutic strategy for cerebellar ataxia
H Huang, VG Shakkottai - Life, 2023 - mdpi.com
In degenerative neurological disorders such as Parkinson's disease, a convergence of
widely varying insults results in a loss of dopaminergic neurons and, thus, the motor …
widely varying insults results in a loss of dopaminergic neurons and, thus, the motor …
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome
L Liang, H Liu, D Bartholdi, A van Haeringen… - Acta …, 2022 - Wiley Online Library
Aim Loss‐of‐function KCNMA1 variants cause Liang–Wang syndrome (MIM# 618729), a
newly identified multiple malformation syndrome with a broad spectrum of developmental …
newly identified multiple malformation syndrome with a broad spectrum of developmental …
BK channel gating mechanisms: Progresses toward a better understanding of variants linked neurological diseases
J Cui - Frontiers in physiology, 2021 - frontiersin.org
The large conductance Ca2+-activated potassium (BK) channel is activated by both
membrane potential depolarization and intracellular Ca2+ with distinct mechanisms. Neural …
membrane potential depolarization and intracellular Ca2+ with distinct mechanisms. Neural …