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Full-Text Articles in Pathology
Potassium Channel Subfamily T Member 1(Kcnt1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report, Prem Chand, Meher Angez, Ayesha Nasir Hameed, Salman Kirmani
Potassium Channel Subfamily T Member 1(Kcnt1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report, Prem Chand, Meher Angez, Ayesha Nasir Hameed, Salman Kirmani
Department of Paediatrics and Child Health
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 …
Metabolomics Of A Neonatal Cohort From The Alliance For Maternal And Newborn Health Improvement Biorepository: Effect Of Preanalytical Variables On Reference Intervals, Lena Jafri, Aysha Habib Khan, Muhammad Ilyas, Muhammad Imran Nisar, Javairia Khalid, Hafsa Majid, Aneeta Hotwani, Fyezah Jehan
Metabolomics Of A Neonatal Cohort From The Alliance For Maternal And Newborn Health Improvement Biorepository: Effect Of Preanalytical Variables On Reference Intervals, Lena Jafri, Aysha Habib Khan, Muhammad Ilyas, Muhammad Imran Nisar, Javairia Khalid, Hafsa Majid, Aneeta Hotwani, Fyezah Jehan
Department of Pathology and Laboratory Medicine
Background: The study was conducted to determine reference interval (RI) and evaluate the effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and succinylacetone of neonates.
Methodology: DBS samples were collected within 48-72 hours of life. Samples were analyzed for biochemical markers on tandem mass spectrometer at the University of Iowa. Comparison of RI across various categorical variables were performed.
Results: A total of 610 reference samples were selected based on exclusion criteria; 53.2% being females. Mean gestational age (GA) of mothers at the time of delivery was 38.7±1.6 weeks; 24.5% neonates were of low birth weight and …