Potassium channel subfamily T member 1(KCNT1) pathological variant causing epilepsy of infancy with migrating focal seizures: a case report Authors Prem Chand Department of Paediatric and Child Health, Aga Khan University, Karachi, Pakistan Meher Angez 4th Year MBBS Student, Aga Khan University, Karachi, Pakistan Ayesha Nasir Hameed 4th Year MBBS Student, Aga Khan University, Karachi, Pakistan Salman Kirmani Department of Paediatric and Child Health, Aga Khan University, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.6759 Abstract Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month-old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid. This case demonstrated that EIMFS is a grave infantile epileptic encephalopathy which is refractory to anti-epileptic drugs and can present with a wide spectrum of neurogenic and cardiogenic symptoms. Keywords: KCNT1; Mutation; Paediatric; Pakistan. Downloads Full Text Article Published 2023-07-15 How to Cite Prem Chand, Meher Angez, Ayesha Nasir Hameed, & Salman Kirmani. (2023). Potassium channel subfamily T member 1(KCNT1) pathological variant causing epilepsy of infancy with migrating focal seizures: a case report. Journal of the Pakistan Medical Association, 73(8), 1720–1722. https://doi.org/10.47391/JPMA.6759 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 73 No. 8 (2023): AUGUST Section CASE REPORT License Copyright (c) 2023 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.