Novel KCNMA1 variants, encoding the BK K+ channel, are associated with a debilitating
dyskinesia and epilepsy syndrome. Neurodevelopmental delay, cognitive disability, and …

Ion channels are integral membrane proteins whose gating has been increasingly shown to
depend on the presence of the low-abundance membrane phospholipid …

Large-conductance Ca2+-activated K+ channels facilitate the efflux of K+ ions from a variety
of cells and tissues following channel activation. It is now recognized that BK channels …

ABSTRACT KCNMA1-linked channelopathy is an emerging neurological disorder
characterized by heterogeneous and overlap** combinations of movement disorder …

A number of mutations to members of several CNS potassium (K) channel families have
been identified which result in rare forms of neonatal onset epilepsy, or syndromes of which …

Ion transport across cell membranes is essential to cell communication and signaling.
Passive ion transport is mediated by ion channels, membrane proteins that create ion …

The phosphoinositide, phosphatidylinositol 4, 5-bisphosphate (PIP2), has long been
established as a major contributor to intracellular signaling, primarily by virtue of its role as a …

Twelve sodium-activated potassium channel (KCNT1, Slack) genetic mutants have been
identified from severe early-onset epilepsy patients. The changes in biophysical properties …

Membrane proteins, such as ion channels, interact dynamically with their lipid environment.
Phosphoinositol-4, 5-bisphosphate (PIP2) can directly or indirectly modify ion-channel …

Apolipoprotein-L1 (APOL1) is a membrane-interacting protein induced by inflammation,
which confers human resistance to infection by African trypanosomes. APOL1 kills …