Article
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature.
Seizure - 1 Jul 2022
Pisano S, Melis M, Figorilli M, Polizzi L, Rocchi L, Giglio S, Defazio G, Muroni A
Abstract excerpt
BACKGROUND: IRF2BPL is an intronless gene that was mapped to 14q24.3 chromosome in 2000 and codes for the interferon regulatory factor 2 binding like protein. OBJECTIVE: To analyses the clinical characteristics of the patients reported in the literature and of an additional patient we observed in order to better delineate the phenomenological spectrum of the disease and provide indications to improve clinical...
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