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pubmed-article:18711109pubmed:abstractTextAssessment 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 with autosomal dominant partial epilepsy with auditory features (ADPEAF), but estimates of LGI1 mutation penetrance have ranged widely, from 50 to 85%. The current study aimed to provide a more precise estimate of LGI1 mutation penetrance.lld:pubmed
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pubmed-article:18711109pubmed:articleTitlePenetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.lld:pubmed
pubmed-article:18711109pubmed:affiliationG.H. Sergievsky Center, Columbia University, 630 W. 168th Street, P&S Box 16, New York, NY 10032, USA. ro6@columbia.edulld:pubmed
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