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Article

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Epilepsia open - 1 Apr 2026

Muhammad Anees, Nosrati Mohammad Sadegh Shams, Dostmohammadi Alireza, Madia Francesca, Mancardi Maria Margherita, Fornarino Stefania, Bosisio Luca, Tavassol Zahra Hoseini, Omrani Mir Davood, Zara Federico, Scala Marcello

Abstract excerpt

The FBXW7 gene encodes a substrate-recognition component of the Skp1-Cul1-F-box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss-of-function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features. Most reported pathogenic variants cluster within the WD40 domains, while...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to F-Box-WD Repeat-Containing Protein 7

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Source

Open in PubMed Open full text

Identifiers

PMID: 41685408
DOI: 10.1002/epi4.70227
PMCID: PMC13051982

Genes

SKP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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