Recurrent c.2152 delT Frameshift Mutation in IRF2BPL Gene Associated with West Syndrome and NEDAMSS Disease (P2-6.010)

To perform a clinical comparison of three cases with a c.2152 delT frameshift mutation in IRF2BPL gene to determine whether it can predict clinical severity.

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Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000212141
Primary Topic
Vascular Anomalies and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

Recurrent c.2152 delT Frameshift Mutation in IRF2BPL Gene Associated with West Syndrome and NEDAMSS Disease (P2-6.010)

Marta Martínez, M.C. Carrascosa-Romero, Enzo Von Quednow, Sara Bragado et al.
Neurology
Vascular Anomalies and Treatments
article

Recurrent c.2152 delT Frameshift Mutation in IRF2BPL Gene Associated with West Syndrome and NEDAMSS Disease (P2-6.010)

Marta Martínez, M.C. Carrascosa-Romero, Enzo Von Quednow, Sara Bragado, Luini Garcia-Quiroa
article en

Abstract

To perform a clinical comparison of three cases with a c.2152 delT frameshift mutation in IRF2BPL gene to determine whether it can predict clinical severity.

NeurologyVol. 104(7_Supplement_1)
Brigham Young University (US), Complejo Hospitalario Universitario de Albacete (ES)
Zero hunger
Openalex Percentile: Top 90%
Vascular Anomalies and Treatments
DOISourceOpenAlex
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