Potassium (K+) channels are membrane-spanning proteins forming pores selective for K+ ions. With more than 100 subunits, they are ubiquitously expressed, controlling distinct functions in both excitable and non-excitable cells. In particular, K+ channels are well-known to control the resting membrane potential and cell excitability in the nervous system.
Mutations in a number of genes (such as KCNQ2, KCNA1, KCNH1, KCNT1) coding for these channels have been associated with a wide range of neurological disorders such as epilepsy, ataxia, intellectual disability, and neurocognitive delay. Although many of these pathogenic variants have been functionally characterized, many others still need to be examined and further studies are needed.
Furthermore, a pharmacological approach applied to these pathogenic variants, which can be potentially important for discovering new and personalized therapies, has been addressed only in a few cases.
In this scenario, this Research Topic focuses on filling the gap between the number of identified pathogenic variants and those functionally characterized, gathering in-depth knowledge about the genotype-phenotype correlation, and stimulating new pharmacological approaches, potentially useful in supporting patients suffering from neurological disorders related to K+ channels alterations.
To this aim, we welcome submissions of original research articles and review papers addressing, but not limited to, the following subtopics:
1. Functional characterization of K+ channels incorporating newly-identified or known variants associated with neurologic disorders, in heterologous expression systems, neuronal primary cultures, iPSC-derived neurons or in slices from animal models using electrophysiological recordings (Two Electrode Voltage clamp, Patch Clamp, Multi-Electrode Array) ;
2. In vitro and in vivo studies on the physiopathologic mechanisms leading to these diseases;
3. Studies of K+ channel pharmacological modulation as a tool to guide the treatments for patients carrying these variants, to improve their clinical outcome.
Potassium (K+) channels are membrane-spanning proteins forming pores selective for K+ ions. With more than 100 subunits, they are ubiquitously expressed, controlling distinct functions in both excitable and non-excitable cells. In particular, K+ channels are well-known to control the resting membrane potential and cell excitability in the nervous system.
Mutations in a number of genes (such as KCNQ2, KCNA1, KCNH1, KCNT1) coding for these channels have been associated with a wide range of neurological disorders such as epilepsy, ataxia, intellectual disability, and neurocognitive delay. Although many of these pathogenic variants have been functionally characterized, many others still need to be examined and further studies are needed.
Furthermore, a pharmacological approach applied to these pathogenic variants, which can be potentially important for discovering new and personalized therapies, has been addressed only in a few cases.
In this scenario, this Research Topic focuses on filling the gap between the number of identified pathogenic variants and those functionally characterized, gathering in-depth knowledge about the genotype-phenotype correlation, and stimulating new pharmacological approaches, potentially useful in supporting patients suffering from neurological disorders related to K+ channels alterations.
To this aim, we welcome submissions of original research articles and review papers addressing, but not limited to, the following subtopics:
1. Functional characterization of K+ channels incorporating newly-identified or known variants associated with neurologic disorders, in heterologous expression systems, neuronal primary cultures, iPSC-derived neurons or in slices from animal models using electrophysiological recordings (Two Electrode Voltage clamp, Patch Clamp, Multi-Electrode Array) ;
2. In vitro and in vivo studies on the physiopathologic mechanisms leading to these diseases;
3. Studies of K+ channel pharmacological modulation as a tool to guide the treatments for patients carrying these variants, to improve their clinical outcome.