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

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 …

Epileptic encephalopathies are generally considered to be functional disruptions in the
balance between neural excitation and inhibition. Excitatory and inhibitory voltage-gated ion …

Critical periods are windows of heightened plasticity occurring during neurodevelopment.
Alterations in neural activity during these periods can cause long-lasting changes in the …

Ion homeostasis, which is regulated by ion channels, is crucial for intracellular signaling.
These channels are involved in diverse signaling pathways, including cell proliferation …

Objective: Numerous pathogenic variants in KCNB1, which encodes the voltage-gated
potassium channel, KV2. 1, are linked to developmental and epileptic encephalopathies and …

KCNMA1 encodes the voltage-and calcium-activated K+ (BK) channel, which regulates
suprachiasmatic nucleus (SCN) neuronal firing and circadian behavioral rhythms. Gain-of …

BK channels are large conductance potassium channels characterized by four pore-forming
α subunits, often co-assembled with auxiliary β and γ subunits to regulate Ca2+ sensitivity …

The large-conductance, Ca2+-, and voltage-activated K+ (BK) channel consists of the pore-
forming α (BKα) subunit and regulatory β and γ subunits. The γ1–3 subunits facilitate BK …

KCNMA1-linked channelopathy is a neurological disorder characterized by seizures, motor
abnormalities, and neurodevelopmental disabilities. The disease mechanisms are predicted …