Biallelic mutations in neurofascin lead to impaired brain development and function


  • Developmental delays in individuals with mutations in neurofascin are highlighted in this small study.

  • Furthermore, results from the study’s functional analysis suggest that abnormal Nfasc155 interaction with CNTN1 and CASPR1 could be an important disease mechanism in NFASC-related genetic diseases.

Why this matters

  • This study provides further insights into a potentially important genetic variants that lead to impaired brain development and function.

  • NFASC biallelic variant carriers are at risk of impaired brain development and function, and these results may facilitate early detection, and treatment.