Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-019-0717-y
Abstract: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease characterized by cerebellar ataxia. Many causative genes have been identified to date, the most common etiology being the abnormal expansion of repeat sequences, and the mutation of… read more here.
Keywords: spinocerebellar ataxia; potassium channel; ataxia; channel mutations ... See more keywords
Perioperative Management and Considerations for Patients With Voltage-Gated Sodium Channel Mutations: A Pediatric Case Report.
Sign Up to like & getrecommendations! Published in 2022 at "A&A practice"
DOI: 10.1213/xaa.0000000000001637
Abstract: A 13-year-old girl with a voltage-gated sodium channel mutation (SCN8A)-associated intractable epilepsy presented for bilateral mastectomy for painful juvenile fibroadenomatosis. Sodium channel mutations are more frequently diagnosed with continued advances in genetic testing. Understanding the… read more here.
Keywords: voltage gated; sodium channel; channel mutations; channel ... See more keywords
BK Channel Gating Mechanisms: Progresses Toward a Better Understanding of Variants Linked Neurological Diseases
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2021.762175
Abstract: The large conductance Ca2+-activated potassium (BK) channel is activated by both membrane potential depolarization and intracellular Ca2+ with distinct mechanisms. Neural physiology is sensitive to the function of BK channels, which is shown by the… read more here.
Keywords: channel mutations; channel; physiology; gating mechanisms ... See more keywords