ArticleMovement disorders : official journal of the Movement Disorder Society2020
A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.
Article in Movement disorders : official journal of the Movement Disorder Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
- Validation of a torsinA cerebellar knockdown model of DYT1 dystonia.Dystonia (Lausanne, Switzerland) · 2026Article
- Altered trial-to-trial responses to reward outcomes in KCNMA1 knockout mice during probabilistic learning tasks.Behavioral and brain functions : BBF · 2024Article
- Redox-dependent CdBiophysical journal · 2024Article
- Structural mapping of patient-associated KCNMA1 gene variants.Biophysical journal · 2024Article
- Attenuating midline thalamus bursting to mitigate absence epilepsy.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia.Life (Basel, Switzerland) · 2023Review
- An allosteric modulator activates BK channels by perturbing coupling between CaNature communications · 2022Article
- Article
- Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with theMovement disorders clinical practice · 2022Article
- An emerging spectrum of variants and clinical features inChannels (Austin, Tex.) · 2021Review
- Impaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- BK Channel Gating Mechanisms: Progresses Toward a Better Understanding of Variants Linked Neurological Diseases.Frontiers in physiology · 2021Review
- Paroxysmal Genetic Movement Disorders and Epilepsy.Frontiers in neurology · 2021Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe mutations of KCNMA1 BK-type K
objectivesTo report our clinical and biophysical characterizations of a novel de novo KCNMA1 variant, as well as an effective therapy for the patient's dystonia-atonia spells.
methodsCombination of phenotypic characterization, therapy, and biophysical characterization of the patient and her mutation.
resultsThe patient had >100 dystonia-atonia spells per day with mild cerebellar atrophy. She also had autism spectrum disorder, intellectual disability, and attention deficit hyperactivity disorder. Whole-exome sequencing identified a heterozygous de novo BK N536H mutation. Our biophysical characterization demonstrates that N536H is a gain-of-function mutation with markedly enhanced voltage-dependent activation. Remarkably, administration of dextroamphetamine completely suppressed the dystonia-atonia spells.
conclusionsBK N536H is a gain-of-function that causes dystonia and other neurological symptoms. Our stimulant therapy opens a new avenue to mitigate KCNMA1-linked movement disorders. © 2020 International Parkinson and Movement Disorder Society.
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