Case report Year :2026 Month : January Volume : 14 Issue : 1 Page : PC03 - PC05 Full Version Early-Onset Epilepsy in Infancy Associated with Mutations in KCNQ2 and SCN8A: A Report of Two Cases Ayushi Rajeshbhai Agravat, Rishit Maheshbhai Makadia, Halak Hasmukhbhai Chauhan, Pankti Dhaivat Desai, Sunil Chandrasen Chand 1. Resident Doctor, Department of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, India. 2. Resident Doctor, Department of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, India. 3. Assistant Professor, Department of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, India. 4. Professor, Department of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, India. 5. Associate Professor, Department of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, India.   Correspondence Address : Dr. Ayushi Rajeshbhai Agravat, Room No. 1012, PG Girls Hostel, Narendra Modi Medical College, Ahmedabad-380008, Gujarat, India. E-mail: ayushiagravat4@gmail.com   ABSTRACT : Neonatal seizures are most commonly attributed to hypoxic-ischaemic injury, metabolic abnormalities, or central nervous system infections; however, an increasing proportion of cases are recognised to have an underlying genetic aetiology, particularly when routine investigations are non-contributory. Present report is of two neonates with early-onset seizures caused by distinct monogenic channelopathies who demonstrated markedly divergent clinical courses and outcomes. The first case was a near-term female neonate who presented on day 8 of life with recurrent tonic seizures and a significant family history of unexplained infantile death in a sibling. Comprehensive evaluation revealed no metabolic or structural abnormalities. Whole-Exome Sequencing (WES) identified a heterozygous pathogenic loss-of-function variant in the KCNQ2 gene. Seizures were controlled with phenobarbital monotherapy, and the infant remained seizure-free with age-appropriate neurodevelopment at 12 months of follow-up. The second case was a term male neonate who presented on day 11 of life with focal autonomic seizure clusters. Magnetic Resonance Imaging (MRI) brain demonstrated non-specific pachymeningeal enhancement. Despite treatment with five antiepileptic drugs (AEDs), seizures remained pharmacoresistant. Genetic analysis revealed a heterozygous variant of uncertain significance (VUS) in the SCN8A gene (c.1157C>A; p.Thr386Lys) and an additional heterozygous SLC6A1 variant (c.582G>T; p.Glu194Asp). By four months of age, the infant exhibited profound global developmental delay. These cases illustrate contrasting clinical trajectories in neonatal channelopathies with similar ages at seizure onset. Keywords : Developmental and epileptic encephalopathy, Genotype-phenotype correlation, Neonatal epilepsy, Pharmacoresistant epilepsy, Voltage-gated ion channels DOI and Others : DOI: 10.7860/IJNMR/2026/84829.2472 Date of Submission: Oct 10, 2025 Date of Peer Review: Dec 17, 2025 Date of Acceptance: Jan 08, 2026 Date of Publishing: Mar 31, 2026 AUTHOR DECLARATION: • Financial or Other Competing Interests: None • Was informed consent obtained from the subjects involved in the study? Yes • For any images presented appropriate consent has been obtained from the subjects. Yes PLAGIARISM CHECKING METHODS: • Plagiarism X-checker: Oct 11, 2025 • Manual Googling: Jan 02, 2026 • iThenticate Software: Jan 06, 2026 (1%) ETYMOLOGY: Author Origin EMENDATIONS: 7

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