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

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

PurposeNeurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder with wide variability in its clinical presentation, rate of progression, and severity of complications. The majority of patients have point mutations, but no specific mutational hotspots have been identified. The aim of t...

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Bibliographic Details
Main Authors: Sijing Ren, Yanling Wang, Xinhua Tong, Xiaoyu Wu, Huan Yan, Qing-Xia Kong
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Neuroscience
Subjects:
neurofibromatosis type 1
NF1 gene mutation
seizures
rare diseases
genotype–phenotype analyses
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2025.1604771/full
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