|
pubmed:abstractText |
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 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.
|
|
pubmed:affiliation |
G.H. Sergievsky Center, Columbia University, 630 W. 168th Street, P&S Box 16, New York, NY 10032, USA. ro6@columbia.edu
|
