title: Genetic neurological channelopathies: molecular genetics and clinical phenotypes.
abstract: Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. Typically, neurological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturbances of neurological function, although the impairment of function can become fixed with time. These disorders are individually rare, but an accurate diagnosis is important as it has genetic counselling and often treatment implications. Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies.
authors.affiliation: Royal Free Hospital Foundation Trust London, London, UK MRC Centre for Neuromuscular Disease, UCL, London, UK.
authors.forename: J
authors.initials: J
authors.lastname: Spillane
authors.affiliation: MRC Centre for Neuromuscular Disease, UCL, London, UK UCL, Institute of Neurology, London, UK.
authors.forename: D M
authors.initials: DM
authors.lastname: Kullmann
authors.affiliation: MRC Centre for Neuromuscular Disease, UCL, London, UK UCL, Institute of Neurology, London, UK.
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
mesh_terms: D002493:Central Nervous System Diseases / Q000235:genetics* / Q000473:pathology*; D053447:Channelopathies / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008967:Molecular Biology; D010641:Phenotype
keywords: CHANNELS; GENETICS; MOLECULAR BIOLOGY