Episodic and electrical nervous system disorders caused by nonchannel genes

Annu Rev Physiol. 2015:77:525-41. doi: 10.1146/annurev-physiol-021014-071814. Epub 2014 Oct 17.

Abstract

As noted in the separate introduction to this special topic section, episodic and electrical disorders can appear quite different clinically and yet share many overlapping features, including attack precipitants, therapeutic responses, natural history, and the types of genes that cause many of the genetic forms (i.e., ion channel genes). Thus, as we mapped and attempted to clone genes causing other episodic disorders, ion channels were always outstanding candidates when they mapped to the critical region of linkage in such a family. However, some of these disorders do not result from mutations in channels. This realization has opened up large and exciting new areas for the pathogenesis of these disorders. In some cases, the mutations occur in genes of unknown function or without understanding of molecular pathogenesis. Recently, emerging insights into a fascinating group of episodic movement disorders, the paroxysmal dyskinesias, and study of the causative genes and proteins are leading to the emerging concept of episodic electric disorders resulting from synaptic dysfunction. Much work remains to be done, but the field is evolving rapidly. As it does, we have come to realize that the molecular pathogenesis of electrical and episodic disorders is more complex than a scenario in which such disorders are simply due to mutations in the primary determinants of membrane excitability (channels).

Keywords: channelopathies; epilepsy; familial disorders; migraine; nonchannel causes of electrical diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Apoptosis Regulatory Proteins / genetics
  • Apoptosis Regulatory Proteins / physiology
  • Casein Kinase Idelta / genetics
  • Casein Kinase Idelta / physiology
  • Disease Models, Animal
  • Glucose Transporter Type 1 / genetics
  • Glucose Transporter Type 1 / physiology
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology
  • Mice
  • Muscle Proteins / genetics
  • Muscle Proteins / physiology
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / physiopathology*
  • Receptors, G-Protein-Coupled / genetics
  • Receptors, G-Protein-Coupled / physiology
  • Synapses / genetics*
  • Synapses / physiology*

Substances

  • Apoptosis Regulatory Proteins
  • Glucose Transporter Type 1
  • Mass1 protein, mouse
  • Membrane Proteins
  • Muscle Proteins
  • NOL3 protein, human
  • Nerve Tissue Proteins
  • PRRT2 protein, human
  • Receptors, G-Protein-Coupled
  • Casein Kinase Idelta