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Updated: Mar 13, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.

Enzo von Quednow1, Sara Bragado López2, Marta Martínez González2

  • 1Department of Clinical Neurophysiology, General University Hospital, Albacete, Spain.

American Journal of Medical Genetics. Part A
|March 11, 2026
PubMed
Summary
This summary is machine-generated.

A specific IRF2BPL gene variant (c.2152del) is linked to a severe neurodevelopmental disorder, Neurodevelopmental Disorder with Hypotonia, Seizures, and Intellectual Disability Syndrome (NEDAMSS). This finding highlights a consistent clinical pattern in affected individuals.

Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • IRF2BPL gene variants are associated with severe neurodevelopmental disorders.
  • Early-onset epileptic encephalopathies present significant diagnostic challenges.
Keywords:
IRF2BPLNEDAMSS syndromec.2152del variantepileptic encephalopathyneurodevelopmental regression

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