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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.
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.
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