Article
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.
Epilepsy research - 1 Jan 2018
Leonardi Emanuela, Dazzo Emanuela, Aspromonte Maria Cristina, Tabaro Francesco, Pascarelli Stefano, Tosatto Silvio C E, Michelucci Roberto, Murgia Alessandra, Nobile Carlo
Abstract excerpt
Autosomal dominant epilepsy with auditory features (ADEAF) is clinically characterized by focal seizures with prominent auditory or aphasic auras and absence of structural brain abnormalities. Mutations in LGI1 and RELN genes account for the disorder in about 50% of ADEAF families. In a recent paper, a heterozygous intragenic deletion in the CNTNAP2 gene has been associated to ADEAF in a single family. We...
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