CNTNAP2 mutations and autosomal dominant epilepsy with auditory features

Emanuela Leonardi, Emanuela Dazzo, Maria Cristina Aspromonte, Francesco Tabaro, Stefano Pascarelli, Silvio C.E. Tosatto, Roberto Michelucci, Alessandra Murgia, Carlo Nobile

Research output: Contribution to journalArticlepeer-review

Abstract

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 screened 28 ADEAF families for mutations in CNTNAP2 by next generation sequencing and copy number variation analyses and found no likely pathogenic mutations segregating with the disease. CNTNAP2 should be screened in genetically unsolved ADEAF families, but causative mutations are expected to be infrequent in this gene.

Original languageEnglish
Pages (from-to)51-53
Number of pages3
JournalEpilepsy Research
Volume139
DOIs
Publication statusPublished - Jan 1 2018

Keywords

  • ADLTE
  • ADPEAF
  • CASPR2
  • Mutation
  • Temporal lobe epilepsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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