This chapter focuses on molecular changes in subunits of potassium channels, which are
relevant to various disorders. Numerous studies on the diversity of amino acid sequences of potassium
channels have been conducted. Since over 50 mammalian genes encode the chief subunits of potassium
channels, it is difficult to carry out the research. Each of these genes can undergo a lot of multiple
mutations which significantly influence potassium channel function. If we take into consideration all
the changes, the functional diversity of the channels extends radically. In addition, these genes undergo
RNA processing, such as alternative splicing, which leads to multiplication of protein products for each
gene. As a result, the number of different mammalian principal subunits increases to over a few
hundred. Considering other changes arising in the processes of gene transcription, RNA processing,
post-translational modification and protein degradation, the total number of different functional
potassium channel subtypes is probably much higher.
In the first part of this chapter we would like to present the diversity of mutations in genes coding for
potassium channels as well as their influence related to the most important defects, diseases and
functional impairments (from the clinical point of view). We will rather focus on novel information in
this field, published during the last few years. In the following sections, we will describe other
modifications that influence potassium channels, such as alternative splicing, RNA editing and posttranslational
modifications.
Keywords: Potassium chanels mutations, Alternative splicing, Gene transcription, RNA editing, posttranslational
modifications, Romano-Ward Syndrome (RWS), Lange-Nielsen Syndrome (JLNS), Missense
mutation, Benign Familial Neonatal Convulsions (BFNC), Hypokalemic Periodic Paralysis (TPP)
