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.

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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

Issue

Vol. 73 No. 8 (2023): AUGUST

Section

Case Report

License

Copyright (c) 2023 Journal of the Pakistan Medical Association

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

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