Objective: Recently, the ILAE Nosology and Definitions Task Force defined diagnostic criteria for epilepsy syndromes. There is paucity of data on the use of these new diagnostic criteria in children with epilepsy, and how these criteria may lead to changes from previous practice.
Methods: This was a retrospective chart review of data of children attending the epilepsy clinic in a tertiary care children's hospital from January 2011 to January 2023.
Epilepsy Behav Rep
September 2021
Biallelic variants in (Cysteinyl-tRNA synthetase 2; MIM*612800), are known to cause combined oxidative phosphorylation deficiency 27 (MIM#616672), characterized by severe myoclonic epilepsy, neuroregression and complex movement disorders. To date, six individuals from five families have been reported with variants in . Herein, we present an 11-year-old boy who presented with neuroregression, dysfluent speech, aggressive behavior and tremors for 2 years.
View Article and Find Full Text PDFObjectives: This cross-sectional study was designed to test the applicability of the 1989, 2010, and 2017 International League Against Epilepsy (ILAE) classification of epilepsy in children from a resource-limited setting in India.
Methods: Classification of seizure types and syndromes was done through parental interviews and review of medical records in children with epilepsy aged one month to 18 years. Available investigations including EEG, MRI, and metabolic/genetic tests were used in classifying patients as per the 1989, 2010, and 2017 ILAE (level II-epilepsy type) classification.