
IndraLab
Statements
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"KCNB1 forms complexes with integrins named IKCs, that regulate the migration of excitatory glutamatergic neurons during corticogenesis. xref Accordingly, Knock In mice harboring a missense ( Kcnb1 R312H ) mutation found in children with developmental and epileptic encephalopathy (DEE), an umbrella term to describe pathologies in which severe developmental delay coexists with epilepsy, xref , xref exhibit neocortical malformations and defective pyramidal neuron morphology that are due to impairment of the signaling machinery of the IKC. xref Since integrins are broadly expressed in the brain, we asked whether they were also present in KCNB1‐LepR complexes."
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"In vivo, tetramers that assemble only by α subunits are called homotetrameric Kv2.1 channels, whereas tetramers assembled by both α subunits and other families of channel-forming subunits are referred to as heterotetrameric Kv2.1 channels.[ xref ]Homotetrameric Kv2.1 channels contribute to a significant fraction of delayed rectifier potassium currents in various neuronal subtypes, including pyramidal neurones in the hippocampus and cortex, are more complex, and depend on the subunit composition of the channel.[ xref , xref ]In vitro and in vivo experiments have verified that the pathogenic mechanism of KCNB1 -related diseases involves channel hypofunction, altered voltage dependence, reduced protein expression, or cell surface trafficking due to KCNB1 gene variants.[ xref , xref ]Kv2.1 also forms complexes with integrins that are essential for the migration of glutamatergic neurones during prenatal brain development and regulates migration through nonionic functions.[ xref ]"