CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.

Area of Science:

• Genetics
• Neurology
• Epilepsy Research

Background:

• Autosomal dominant epilepsy with auditory features (ADEAF) presents with focal seizures and auditory/aphasic auras, lacking brain abnormalities.
• Mutations in LGI1 and RELN genes explain approximately 50% of ADEAF cases.
• A recent study linked a CNTNAP2 gene deletion to ADEAF in one family.

Purpose of the Study:

• To investigate the role of the CNTNAP2 gene in the genetic etiology of ADEAF.
• To screen a cohort of ADEAF families for mutations in the CNTNAP2 gene.

Main Methods:

• Screening of 28 ADEAF families for CNTNAP2 mutations using next-generation sequencing.
• Copy number variation (CNV) analyses were performed to detect deletions or duplications in CNTNAP2.

Main Results:

• No likely pathogenic mutations in the CNTNAP2 gene were identified in the screened ADEAF families.
• The previously reported intragenic deletion in CNTNAP2 was not found to segregate with the disease in other families.

Conclusions:

• CNTNAP2 is unlikely to be a frequent cause of ADEAF.
• While CNTNAP2 screening may be considered for genetically unsolved ADEAF cases, causative mutations are expected to be rare.