Work

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

Year: 2025

Type: article

Study design: Case Report

Source: Neurology

DOI: 10.1212/wnl.0000000000212141

Authors: Enzo Von Quednow, Marta Martinez Gonzalez, Sara Bragado, Luini Garcia-Quiroa, María Carrascosa-Romero

Institutions: Complejo Hospitalario Universitario de Albacete, Brigham Young University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4409227236

FWCI:

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