Читать книгу Neurology - Charles H. Clarke - Страница 87

To understand a channelopathy requires knowledge of the normal role of the ion channel, both in neurone or muscle excitability, action potential propagation and synaptic transmission and expression of the mutated ion channel. Mutations can have multiple effects – on channel genesis and operation.

Examples are:

 Premature stop codons – the message to create a protein is incomplete.

 Splice site mutations – alteration in the DNA sequence between an exon and an intron.

Other mutations can give rise to non‐functional subunits that fail to assemble normally, alter trafficking and voltage‐dependent or ligand‐dependent gating. Deletions and duplications of entire exons or genes also occur.