Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.

Abstract excerpt

OBJECTIVE: In families with autosomal dominant partial epilepsy with auditory features (ADPEAF) with mutations in the LGI1 gene, we evaluated clustering of mutations within the gene and associations of penetrance and phenotypic features with mutation location and predicted effect (truncation or missense). METHODS: We abstracted clinical and molecular information from the literature for all 36 previously published...

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