Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13024
Abstract: KCNMA1 codes for the pore-forming alpha-subunit of the voltageand calcium-sensitive potassium channel (BK channel). BK channel dysfunction has previously been implicated in paroxysmal dyskinesia. We describe 3 unrelated patients with cataplexy, all sharing the same… read more here.
Keywords: developmental delay; kcnma1; patient year; year old ... See more keywords
KCNMA1 cooperating with PTK2 is a novel tumor suppressor in gastric cancer and is associated with disease outcome
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Cancer"
DOI: 10.1186/s12943-017-0613-z
Abstract: BackgroundInactivation of tumor suppressor genes by promoter hypermethylation plays a key role in the tumorgenesis. It is necessary to uncover the detailed pattern of whole genome-wide abnormal DNA methylation during the development of gastric cancer… read more here.
Keywords: tumor suppressor; gastric cancer; kcnma1; cancer ... See more keywords
Molecular Mechanisms of Epileptic Encephalopathy Caused by KCNMA1 Loss-of-Function Mutations
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2021.775328
Abstract: The gene kcnma1 encodes the α-subunit of high-conductance calcium- and voltage-dependent K+ (BK) potassium channel. With the development of generation gene sequencing technology, many KCNMA1 mutants have been identified and are more closely related to… read more here.
Keywords: mechanisms epileptic; loss function; molecular mechanisms; loss ... See more keywords
BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.7554/elife.77953
Abstract: KCNMA1 forms the pore of BK K+ channels, which regulate neuronal and muscle excitability. Recently, genetic screening identified heterozygous KCNMA1 variants in a subset of patients with debilitating paroxysmal non-kinesigenic dyskinesia, presenting with or without… read more here.
Keywords: channel properties; severity three; mice; three kcnma1 ... See more keywords