Why the study?
Pathogenic mechanisms linking potassium channelopathies to neurological conditions remain unclear, and a systematic summary of clinical manifestations is lacking.
This review summarizes the phenotypic-genotypic spectrum of KCa-related neurological disorders and highlights potential pharmaceutical strategies targeting KCa channels for anti-seizure drug discovery.
Alerts clinicians to KCa channelopathies in unexplained neurology; extends molecular framework but leaves open therapeutic validation.
Although potassium channelopathies have been linked to a wide range of neurological con- ditions, the underlying pathogenic mechanism is not always clear, and a systematic summary of clini- cal manifestation is absent. Several neurological disorders have been associated with alterations of calcium-activated potassium channels (KCa channels), such as loss- or gain-of-function mutations, post-transcriptional modification, etc. Here, we outlined the current understanding of the molecular and cellular properties of three subtypes of KCa channels, including big conductance KCa channels (BK), small conductance KCa channels (SK), and the intermediate conductance KCa channels (IK). Next, we comprehensively reviewed the loss- or gain-of-function mutations of each KCa channel and described the corresponding mutation sites in specific diseases to broaden the phenotypic-genotypic spectrum of KCa-related neurological disorders. Moreover, we reviewed the current pharmaceutical strategies targeting KCa channels in KCa-related neurological disorders to provide new directions for drug discovery in anti-seizure medication.
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Zahra et al. (2022) studied this question.
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