Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature

S Pisano,M Melis,M Figorilli,L Polizzi,L Rocchi, S Giglio,G Defazio,A Muroni

Seizure（2022）

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摘要

•Epilepsy in IRF2BPL mutation syndrome is expressed in various clinical manifestations.•The phenotype in IRF2BPL mutation syndrome is heterogeneous and often includes multiple neurological domains.

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关键词

IRF2BPL gene,Epilepsy

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