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Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features

BACKGROUND: Assessment of the penetrance of disease-causing mutations is extremely important for developing clinical applications of gene discovery, such as genetic testing and counseling. Mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) have been identified in about 50% of families w...

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Autori principali: Rosanoff, Michael J., Ottman, Ruth
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Academy of Neurology 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2652575/
https://ncbi.nlm.nih.gov/pubmed/18711109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000323926.77565.ee
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