Volume 11, Issue 1 (2025)
CJP 2025, 11(1): e16 |
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kumar D V, kumar A, Twari S. A Novel IRF2BPL Gene Mutation in a Case of Early Infantile Epileptic Encephalopathy Presenting as Dystonia and Neuroregression: A Case Report. CJP 2025; 11 (1)
URL: http://caspianjp.ir/article-1-267-en.html
URL: http://caspianjp.ir/article-1-267-en.html
Department of Paediatrics, Military Hospital Jaipur, Jaipur, Rajasthan, India , varunafmcv2@gmail.com
Abstract: (62 Views)
Background and Objective: The IRF2BPL gene is responsible for producing a protein that is found in various parts of the human body, including the central nervous system. Research indicates that this gene functions as both a transcriptional activator and an ubiquitin ligase. It plays a role in the development and maintenance of the nervous system. Mutations in the IRF2BPL gene typically manifest as epileptic encephalopathy, accompanied by neurodevelopmental disorders, regression, abnormal movements, loss of speech, and seizures. In this case, we present an IRF2BPL gene mutation causing Early Infantile Epileptic encephalopathy.
Case Report: A 09-month-old male who initially experienced fever and GTCS seizures, which later progressed to dystonia and neuroregression. Comprehensive metabolic evaluations, TMS, and GCMS results were normal. MRI scans revealed mild hyperintensity in the bilateral frontal, parietal cortical, and subcortical regions. EEG results showed low voltage complexes. Whole exome sequencing identified a heterozygous missense variant in exon 1 of the IRF2BPL gene (c.1857C>A), leading to the substitution of Lysine for Asparagine at codon 619 (p.Asn619Lys).
Conclusion: IRF2BPL gene mutation causing Early Infantile Epileptic encephalopathy is novel and has not been previously documented in the literature. Additional research is necessary to establish this association.
Case Report: A 09-month-old male who initially experienced fever and GTCS seizures, which later progressed to dystonia and neuroregression. Comprehensive metabolic evaluations, TMS, and GCMS results were normal. MRI scans revealed mild hyperintensity in the bilateral frontal, parietal cortical, and subcortical regions. EEG results showed low voltage complexes. Whole exome sequencing identified a heterozygous missense variant in exon 1 of the IRF2BPL gene (c.1857C>A), leading to the substitution of Lysine for Asparagine at codon 619 (p.Asn619Lys).
Conclusion: IRF2BPL gene mutation causing Early Infantile Epileptic encephalopathy is novel and has not been previously documented in the literature. Additional research is necessary to establish this association.
Type of Study: case report |
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