A Triplet Repeat Expansion Genetic Mouse Model of Infantile Spasms Syndrome, Arx((GCG)10+7), with Interneuronopathy, Spasms in Infancy, Persistent Seizures, and Adult Cognitive and Behavioral Impairment

Infantile spasms syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms, persistent seizures, mental retardation, and in some cases, autism. One of its monogenic causes is an insertion mutation [c.304ins (GCG)(7)] on the X chromosome, expanding the first polyalanine tract of the inter...

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Main Authors: Price, Maureen G., Yoo, Jong W., Burgess, Daniel L., Deng, Fang, Hrachovy, Richard A., Frost, James D., Noebels, Jeffrey L.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2009
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2782569/
https://ncbi.nlm.nih.gov/pubmed/19587282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.0915-09.2009
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