Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

ABSTRACT:

Background

Pyridoxine-dependent epilepsy (PDE) is a rare disorder characterized by seizures resistant to conventional treatments but responsive to pyridoxine therapy. Typically caused by biallelic variants in ALDH7A1, PNPO, or PLPBP, a few patients present a similar clinical phenotype but without confirmed molecular diagnoses. We report a child with a 13-year PDE diagnosis and normal intellectual development, whose seizures recurred after pyridoxine withdrawal but resolved with reintroduction, despite unremarkable whole-exome sequencing results.

Methods

Following negative results from WES, optical genome mapping (OGM) and whole-genome sequencing (WGS) were performed to highlight any potential structural variants involving known PDE-associated genes.

R

SUBMITTER: Falsaperla R 

PROVIDER: S-EPMC12652939 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature