en عمومى General گزارش مورد case report <div style="text-align: justify;"><span style="font-size:14px;"><span style="font-family:Times New Roman;"><span style="line-height:14.0pt"><b><span style="color:#24a3a0">Background and Objective:</span></b> <span style="color:#000000;">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.</span></span><br> <span style="line-height:14.0pt"><b><span style="color:#24a3a0">Case Report:</span></b> <span style="color:#000000;">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).</span></span><br> <span style="line-height:14.0pt"><b><span style="color:#24a3a0">Conclusion:</span></b> <span style="color:#000000;">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.</span></span></span></span></div> Dystonia, Encephalopathy, IRF2BPL, Neuroregression 0 0 http://caspianjp.ir/browse.php?a_code=A-10-342-1&slc_lang=en&sid=1 Dasari varun kumar varunafmcv2@gmail.com 10031947532846005208 10031947532846005208 Yes Department of Paediatrics, Military Hospital Jaipur, Jaipur, Rajasthan, India Anil kumar teterwal234@gmail.com 10031947532846005210 10031947532846005210 No Department of Paediatrics, Military Hospital Jaipur, Jaipur, Rajasthan, India Sudhanshu Twari drsudhanshuafmc@gmail.com 10031947532846005209 10031947532846005209 No Department of Paediatrics, Military Hospital Roorkee, Uttarakhand, India