Results 141 to 150 of about 486,202 (294)
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source
Epilepsia, EarlyView.Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze +19 more
wiley +1 more source
Infant and Child Mortality in Andhra Pradesh: Analysing changes over time and between states [PDF]
Most countries of the world are reducing infant and child mortality too slowly to meet the Millennium Development Goal of a two-thirds reduction by 2015.
Masset, Edoardo, White, Howard
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Determinants of infant and child mortality in Zimbabwe: Results of multivariate hazard analysis [PDF]
This study addresses important issues in infant and child mortality in Zimbabwe. The objective of the paper is to determine the impact of maternal, socioeconomic and sanitation variables on infant and child mortality. Results show that births of order 6+
Jeroen K Van Ginneken, Joshua Kembo
core
Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention
ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou +5 more
wiley +1 more source
Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
Neonatal seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
wiley +1 more source
Explaining the rural-urban gap in infant mortality in India
Demographic Research, 2013 BACKGROUND Prior studies suggest that infant mortality in rural areas of India is substantially higher than in urban areas. However, little is known about the determinants explaining such excess of rural mortality.
Nandita Saikia +3 more
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