Article
Homozygous inactivation of the LGI1 gene results in hypomyelination in the peripheral and central nervous systems.
Journal of neuroscience research - 15 Nov 2010
Silva Jeane, Sharma Suash, Hughes Bernard, Yu Y Eugene, Cowell John K
Abstract excerpt
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...
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