Results 111 to 120 of about 352,372 (280)
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
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
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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Fetal ultrasound measurements and associations with postnatal outcomes in infancy and childhood : a systematic review of an emerging literature [PDF]
, 2014 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.Peer ...
Alkandari, Farah +4 more
core +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
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
Italian Journal of Pediatrics, 2016 BackgroundA febrile seizure (FS) is the most common convulsive disorder in children. Activation of cytokine network is involved in FS pathogenesis. Adiponectin, leptin and IL-6 are the major adipocytokines secreted by fat cells.
Seham F. A. Azab +15 more
semanticscholar +1 more source
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
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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