Associated Papers
Successful Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 Variant.
Ebner S et al.
Neuropediatrics, 2025
Identification of a new gain-of-function variant p.N536Y of KCNMA1 associated with PNKD3 in the Chinese population.
Huang Y et al.
Acta Physiologica (oxford, England), 2025
KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.
Roze E et al.
Movement Disorders Clinical Practice, 2025
Structural mapping of patient-associated KCNMA1 gene variants.
Moldenhauer HJ et al.
Biophysical Journal, 2024
Structural mapping of patient-associated KCNMA1 gene variants.
Moldenhauer HJ et al.
Biorxiv : the Preprint Server for Biology, 2023
KCa-Related Neurological Disorders: Phenotypic Spectrum and Therapeutic Indications.
Zahra A et al.
Current Neuropharmacology, 2023
The long and winding road to personalized medicine in KCNMA1-linked channelopathies revealed by novel variants associated with the Liang-Wang syndrome.
Soldovieri MV et al.
Acta Physiologica (oxford, England), 2022
BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models.
Park SM et al.
Elife, 2022
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.
Liang L et al.
Acta Physiologica (oxford, England), 2022
Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.
Dong P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant.
Keros S et al.
Movement Disorders Clinical Practice, 2022
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.
Miller JP et al.
Channels (austin, Tex.), 2021
BK Channel Gating Mechanisms: Progresses Toward a Better Understanding of Variants Linked Neurological Diseases.
Cui J
Frontiers in Physiology, 2021
A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.
Zhang G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020