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Article

IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.

Epilepsia - 1 Aug 2023

Gardella Elena, Michelucci Roberto, Christensen Hanne M, Fenger Christina D, Reale Chiara, Riguzzi Patrizia, Pasini Elena, Albini-Riccioli Luca, Papa Valentina, Foschini Maria Pia, Cenacchi Giovanna, Furia Francesca, Marjanovic Dragan, Hammer Trine B, Møller Rikke S, Rubboli Guido

Abstract excerpt

IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multisystemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe a novel IRF2BPL phenotype consistent with progressive myoclonus epilepsy (PME) in three novel subjects and review the features of the 31 subjects with IRF2BPL-related disorders previously reported. Our three...

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Identifiers

PMID: 37114479
DOI: 10.1111/epi.17634

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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