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Updated: Jan 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual

Raffaele Falsaperla1,2, Eliana Salvo3, Annamaria Sapuppo4

  • 1Department of Medical Science, Pediatrics, University of Ferrara, 44124 Ferrara, Italy.

Genes
|November 27, 2025
PubMed
Summary

This study investigates a rare form of pyridoxine-dependent epilepsy (PDE) in a child with normal development. Complex genomic rearrangements, not single gene mutations, were identified as the likely cause of this unique pyridoxine-dependent neurological disorder.

Keywords:
16p11.2 duplication18q12.3 deletionRIT2optical genome mappingseizureswhole-genome sequencing

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