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 …
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 …
Paroxysmal movement disorders
S Harvey, MD King, KM Gorman - Frontiers in neurology, 2021 - frontiersin.org
Paroxysmal movement disorders (PxMDs) are a clinical and genetically heterogeneous
group of movement disorders characterized by episodic involuntary movements (dystonia …
group of movement disorders characterized by episodic involuntary movements (dystonia …
[HTML][HTML] Structural mapping of patient-associated KCNMA1 gene variants
HJ Moldenhauer, K Tammen, AL Meredith - Biophysical Journal, 2024 - cell.com
KCNMA1-linked channelopathy is a neurological disorder characterized by seizures, motor
abnormalities, and neurodevelopmental disabilities. The disease mechanisms are predicted …
abnormalities, and neurodevelopmental disabilities. The disease mechanisms are predicted …
Neuronal mechanism of a BK channelopathy in absence epilepsy and movement disorders
A growing number of gain-of-function (GOF) BK channelopathy have been identified in
patients with epilepsy and paroxysmal movement disorders. Nevertheless, the underlying …
patients with epilepsy and paroxysmal movement disorders. Nevertheless, the underlying …
Calcium-activated potassium channels
AJ Gonzalez-Hernandez, A Kshatri… - Calcium Signals: From …, 2023 - iopscience.iop.org
Calcium-activated potassium channels - Book chapter - IOPscience This site uses cookies. By
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Pathophysiology and Mouse Model of DYT1 Dystonia
Y Liu - 2021 - search.proquest.com
Abstract DYT1/DYT-TOR1A dystonia is an early-onset, generalized dystonia. Most DYT1
dystonia patients have a heterozygous trinucleotide GAG deletion in the DYT1 gene …
dystonia patients have a heterozygous trinucleotide GAG deletion in the DYT1 gene …