Document Type
Case Report
Department
Paediatrics and Child Health; Medical College Pakistan
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.
Publication (Name of Journal)
JPMA. The Journal of the Pakistan Medical Association
DOI
https://doi.org/10.47391/JPMA.6759
Recommended Citation
Chand, P.,
Angez, M.,
Hameed, A. N.,
Kirmani, S.
(2023). Potassium channel subfamily T member 1(KCNT1) pathological variant causing epilepsy of infancy with migrating focal seizures: A case report. JPMA. The Journal of the Pakistan Medical Association, 73(8), 1720-1722.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1471
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.