RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome.

doi:10.3390/ijms27167238

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Article

RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome.

International journal of molecular sciences - 13 Aug 2026

Ceraolo Graziana, Spoto Giulia, Trivisano Marina, Federico Concetta, Vinci Mirella, Calì Francesco, Treccarichi Simone, Musumeci Antonino, Di Rosa Gabriella, Specchio Nicola, Nicotera Antonio Gennaro

Abstract excerpt

Regulatory Factor X3 (RFX3-OMIM#601337) encodes a transcription factor that is highly expressed in the human brain, particularly during neurodevelopment. It has been previously associated with neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual developmental disorder, and attention-deficit/hyperactivity disorder. However, the neurological and epileptic features remain poorly...

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PMID: 42653242
DOI: 10.3390/ijms27167238
PMCID: PMC13513027

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