Associated Papers
The phenotype and genotype of KCNMA1 - related disorders in China.
Wang Q et al.
Seizure, 2026
BK channel activity in skin fibroblasts from patients with neurological disorder.
Dinsdale RL et al.
Channels (austin, Tex.), 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
Heteromeric wild-type/mutant potassium channel subunit composition as a major determinant of channelopathy phenotype in heterozygous patients.
Brelidze TI
The Journal of General Physiology, 2023
BK channels of five different subunit combinations underlie the de novo KCNMA1 G375R channelopathy.
Geng Y et al.
The Journal of General Physiology, 2023
KCa-Related Neurological Disorders: Phenotypic Spectrum and Therapeutic Indications.
Zahra A et al.
Current Neuropharmacology, 2023
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.
Geraghty RM et al.
Journal of Rare Diseases (berlin, Germany), 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
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
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.
Miller JP et al.
Channels (austin, Tex.), 2021
Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.
Rodrigues Bento J et al.
Molecular Genetics & Genomic Medicine, 2021
Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca2+ and Voltage-Activated K+ Channel Activity in Human Insulin Secretion.
Mameli C et al.
Current Issues in Molecular Biology, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
BK Channel Gating Mechanisms: Progresses Toward a Better Understanding of Variants Linked Neurological Diseases.
Cui J
Frontiers in Physiology, 2021
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Tran Mau-Them F et al.
Human Genetics, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
KCNMA1-linked channelopathy.
Bailey CS et al.
The Journal of General Physiology, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L et al.
Human Molecular Genetics, 2019