<i>RFX3</i> Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome.

Overview

1. Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, University of Messina, 98125 Messina, Italy
2. Unit of Child Neurology and Psychiatry, Department of Biomedical Sciences, Dental Sciences & Morpho—Functional Imaging, University of Messina, 98125 Messina, Italy; (G.S.); (G.D.R.)
3. IRCCS Centro Neurolesi Bonino-Pulejo, 98124 Messina, Italy
4. Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesu’ Children’s Hospital IRCCS, EpiCARE, 00168 Rome, Italy; (M.T.); (N.S.)
5. Department of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy
6. Oasi Research Institute—IRCCS, 94018 Troina, Italy; (M.V.); (F.C.); (A.M.)
7. Department of Medicine and Surgery, Kore University of Enna, 94100 Enna, Italy
8. Unit of Child Neurology and Psychiatry, Maternal-Infantile Department, University of Messina, 98125 Messina, Italy

Abstract

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 characterized, and no phenotype has yet been formally annotated in OMIM. Here, we report the second known case of Infantile Epileptic Spasms Syndrome (IESS) associated with RFX3 variants. The patient developed clusters of extensor spasms associated with eye deviation and achieved complete remission within two weeks following vigabatrin and ACTH therapy, remaining seizure-free thereafter. During follow-up, he presented with global developmental delay, ASD, and facial dysmorphisms. Genetic analysis by array comparative genomic hybridization identified a de novo heterozygous microdeletion of approximately 147 kb at 9p24.2, involving the initial exons of RFX3 (NM_134428). This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption. It highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.

Reproduced under the paper's license (CC BY), from the paper cited above.

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Data

Datasets cited

• geo:GSE186334, at NCBI GEO; found in the text, “2.3. Exploratory Analysis of RFX3 Expression…”

Other data links

• ncbi.nlm.nih.gov/geo, NCBI; found in the text, “4.3. Transcriptomic Analysis of…”

Data Availability Statement

All data relevant to this case report are included in the manuscript.

Reproduced under the paper's license (CC BY), from the paper cited above.

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Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 11 authors, 6 keywords, 6 MeSH terms, 22 references.

Cite

This paper

Ceraolo, G., Spoto, G., Trivisano, M., Federico, C., Vinci, M., Calì, F., Treccarichi, S., Musumeci, A., Di Rosa, G., Specchio, N., & Nicotera, A. G. (2026). <i>RFX3</i> Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome. International journal of molecular sciences, 27(16), 7238. https://doi.org/10.3390/ijms27167238

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