Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of a de novo c.6640dupA shift mutation and a splice variant with an epilepsy phenotype

Front Neurosci. 2025 Jul 9;19:1604771. doi: 10.3389/fnins.2025.1604771. eCollection 2025. ABSTRACT PURPOSE: Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder with wide variability in its clinical presentation, rate of progression, and severity of...