Homozygous inactivation of the Lgi1 gene results in hypomyelination in the peripheral and central nervous systems

Jeane Silva, Suash Sharma, Bernard Hughes, Y. Eugene Yu, John K. Cowell

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Mutations in the LGI1 gene in humans predispose to the development of autosomal dominant partial epilepsy with auditory features (ADPEAF). Homozygous inactivation of the Lgi1 gene in mice results in an epilepsy phenotype characterized by clonic seizures within 2-3 weeks after birth. Before onset of seizures, the 2-3-week-old null mutant mice show poor locomotor activity and neuromuscular strength. EM analysis of the sciatic nerve demonstrates impaired myelination of axons in the peripheral nervous system. Although heterozygous mutant mice do not show any locomotor phenotypes, they also demonstrate an intermediate level of hypomyelination compared with the wild type mice. Hypomyelination was also observed in the central nervous system, which, although relatively mild, was still signicantly different from that of the wild-type mice. These data suggest a role for LGI1 in the myelination functions of Schwann cells and oligodendrocytes.

Original languageEnglish (US)
Pages (from-to)3328-3336
Number of pages9
JournalJournal of Neuroscience Research
Volume88
Issue number15
DOIs
StatePublished - Nov 15 2010

    Fingerprint

Keywords

  • CNS
  • Hypomyelination
  • LGI1
  • Mutant null mouse
  • PNS

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience

Cite this