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Article

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

Neurology - 19 Aug 2008

Rosanoff Michael J, Ottman Ruth

Abstract excerpt

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 with autosomal dominant partial epilepsy with auditory features (ADPEAF), but estimates of LGI1 mutation penetrance...

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Identifiers

PMID: 18711109
DOI: 10.1212/01.wnl.0000323926.77565.ee
PMCID: PMC2652575

Genes

LGI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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