Genetic neurological channelopathies: molecular genetics and clinical phenotypes. Issue 1 (11th November 2015)

• Record Type: Journal Article
• Authors: Spillane, J; Kullmann, D M; Hanna, M G
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 87:Issue 1(2016)
• Page Start: 37
• Page End: 48
• Publication Date: 2015-11-11
• Subjects: CHANNELS -- GENETICS -- MOLECULAR BIOLOGY; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2015-311233
• Languages: English
• ISSNs: 0022-3050

Abstract

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.