Tags

Type your tag names separated by a space and hit enter

Sodium channels and neurological disease: insights from Scn8a mutations in the mouse.
Neuroscientist. 2001 Apr; 7(2):136-45.N

Abstract

The human genome contains 10 voltage-gated sodium channel genes, 7 of which are expressed in neurons of the CNS and PNS. The availability of human genome sequences and high-throughput mutation screening methods make it likely that many human disease mutations will be identified in these genes in the near future. Mutations of Scn8a in the mouse demonstrate the broad spectrum of neurological disease that can result from different alleles of the same sodium channel gene. Null mutations of Scn8a produce motor neuron failure, loss of neuromuscular transmission, and lethal paralysis. Less severe mutations result in ataxia, tremor, muscle weakness, and dystonia. The effects of Scn8a mutations on channel properties have been studied in the Xenopus oocyte expression system and in neurons isolated from the mutant mice. The Scn8a mutations provide insight into the mode of inheritance, effect on neuronal sodium currents, and role of modifier genes in sodium channel disease, highlighting the ways in which mouse models of human mutations can be used in the future to understand the pathophysiology of human disease.

Authors+Show Affiliations

Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA. meislerm@umich.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

11496924

Citation

Meisler, M H., et al. "Sodium Channels and Neurological Disease: Insights From Scn8a Mutations in the Mouse." The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, vol. 7, no. 2, 2001, pp. 136-45.
Meisler MH, Kearney J, Escayg A, et al. Sodium channels and neurological disease: insights from Scn8a mutations in the mouse. Neuroscientist. 2001;7(2):136-45.
Meisler, M. H., Kearney, J., Escayg, A., MacDonald, B. T., & Sprunger, L. K. (2001). Sodium channels and neurological disease: insights from Scn8a mutations in the mouse. The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 7(2), 136-45.
Meisler MH, et al. Sodium Channels and Neurological Disease: Insights From Scn8a Mutations in the Mouse. Neuroscientist. 2001;7(2):136-45. PubMed PMID: 11496924.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sodium channels and neurological disease: insights from Scn8a mutations in the mouse. AU - Meisler,M H, AU - Kearney,J, AU - Escayg,A, AU - MacDonald,B T, AU - Sprunger,L K, PY - 2001/8/11/pubmed PY - 2001/9/21/medline PY - 2001/8/11/entrez SP - 136 EP - 45 JF - The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry JO - Neuroscientist VL - 7 IS - 2 N2 - The human genome contains 10 voltage-gated sodium channel genes, 7 of which are expressed in neurons of the CNS and PNS. The availability of human genome sequences and high-throughput mutation screening methods make it likely that many human disease mutations will be identified in these genes in the near future. Mutations of Scn8a in the mouse demonstrate the broad spectrum of neurological disease that can result from different alleles of the same sodium channel gene. Null mutations of Scn8a produce motor neuron failure, loss of neuromuscular transmission, and lethal paralysis. Less severe mutations result in ataxia, tremor, muscle weakness, and dystonia. The effects of Scn8a mutations on channel properties have been studied in the Xenopus oocyte expression system and in neurons isolated from the mutant mice. The Scn8a mutations provide insight into the mode of inheritance, effect on neuronal sodium currents, and role of modifier genes in sodium channel disease, highlighting the ways in which mouse models of human mutations can be used in the future to understand the pathophysiology of human disease. SN - 1073-8584 UR - https://www.unboundmedicine.com/medline/citation/11496924/Sodium_channels_and_neurological_disease:_insights_from_Scn8a_mutations_in_the_mouse_ L2 - http://journals.sagepub.com/doi/full/10.1177/107385840100700208?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -