Results 121 to 130 of about 355,558 (363)
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
Epilepsia Open, EarlyView.Abstract Guanidinoacetate N‐methyltransferase deficiency is an inborn error of creatine metabolism, responsible for the absent conversion of guanidinoacetic acid into creatine, resulting in cerebral creatine deficit. It could present a variety of symptoms such as neurodevelopmental delay, epilepsy, movement disorder (ataxia, dystonia, and chorea), and ...
Mariapaola Schifino +5 more
wiley +1 more source
Febrile Seizures and Febrile Seizure Syndromes: An Updated Overview of Old and Current Knowledge
Neurology Research International, 2015 Febrile seizures are the most common paroxysmal episode during childhood, affecting up to one in 10 children. They are a major cause of emergency facility visits and a source of family distress and anxiety.
Abdulhafeez M. Khair, Dalal Elmagrabi
doaj +1 more source
Asuhan Keperawatan Pada An.M Dengan Kejang Demama Di Ruang Mawar Rsud Banyudono [PDF]
, 2015 Background: Febrile seizure is a neurological disorder that is most commonly found in children, because of the rise of febrile seizures associated with age, level of temperature and speed of temperature increase, including hereditary factors also have a ...
, Irdawati S. Kep., Ns, Msi. Med. +1 more
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Increased expression of matrix metalloproteinase-9 in patients with temporal lobe epilepsy [PDF]
, 2014 Aim: The molecular mechanism of epileptogenesis in temporal lobe epilepsy is still unclear. Experimental studies have suggested that matrix metalloproteinases have important roles in this process, but human studies are limited.
Acar, Feridun +3 more
core +1 more source
Epilepsy in children with a history of febrile seizures
Korean Journal of Pediatrics, 2016 Purpose Febrile seizure, the most common type of pediatric convulsive disorder, is a benign seizure syndrome distinct from epilepsy. However, as epilepsy is also common during childhood, we aimed to identify the prognostic factors that can predict ...
Sang Hyun Lee +4 more
semanticscholar +1 more source
Neuronal surface and intracellular antibody testing in patients with long‐term epilepsy
Epilepsia Open, EarlyView.Abstract Objective We aimed to investigate the frequency of neuronal surface and intracellular antibodies in individuals with long‐term epilepsy and the associated clinical and laboratory characteristics. Methods We tested sera from 223 patients with epilepsy without signs of autoimmune encephalitis and 12 patients with epilepsy and a subacute onset of
Nancy Watanabe +9 more
wiley +1 more source
Assessment of severe malaria in a multicenter, phase III, RTS, S/AS01 malaria candidate vaccine trial: case definition, standardization of data collection and patient care. [PDF]
, 2011 BACKGROUND\ud \ud An effective malaria vaccine, deployed in conjunction with other malaria interventions, is likely to substantially reduce the malaria burden. Efficacy against severe malaria will be a key driver for decisions on implementation.
Amanda Leach +18 more
core +4 more sources
The assessment of laboratory parameters in children with fever and febrile seizures
Brain and Behavior, 2017 The aim of the research paper was to assess selected laboratory results in children with fever without seizures and febrile seizure.
Krystyna Gontko-Romanowska +7 more
semanticscholar +1 more source
Epilepsia Open, EarlyView.Abstract Epilepsy represents a significant medical challenge, with a third of patients failing to achieve seizure freedom despite the use of multiple different anti‐seizure medications (ASM). Drug resistance is common in genetically caused epilepsies. Patients are faced with repeated, long‐lasting, and frequently frustrating drug testing, necessitating
Emma V. Töfflinger +4 more
wiley +1 more source