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Febrile seizures: an overview
AKC Leung, KL Hon, TNH Leung - Drugs in context, 2018 - pmc.ncbi.nlm.nih.gov
Background Febrile seizures are the most common neurologic disorder in childhood.
Physicians should be familiar with the proper evaluation and management of this common …
Physicians should be familiar with the proper evaluation and management of this common …
A review of febrile seizures: recent advances in understanding of febrile seizure pathophysiology and commonly implicated viral triggers
Febrile seizures are one of the commonest presentations in young children, with a 2–5%
incidence in Western countries. Though they are generally benign, with rare long-term …
incidence in Western countries. Though they are generally benign, with rare long-term …
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology …
N Specchio, EC Wirrell, IE Scheffer, R Nabbout… - …, 2022 - Wiley Online Library
Abstract The 2017 International League Against Epilepsy classification has defined a three‐
tier system with epilepsy syndrome identification at the third level. Although a syndrome …
tier system with epilepsy syndrome identification at the third level. Although a syndrome …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
The human phenotype ontology in 2021
S Köhler, M Gargano, N Matentzoglu… - Nucleic acids …, 2021 - academic.oup.com
Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …
to provide a comprehensive logical standard to describe and computationally analyze …
SCN1A‐related phenotypes: epilepsy and beyond
IE Scheffer, R Nabbout - Epilepsia, 2019 - Wiley Online Library
SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several
epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal …
epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal …
Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - Elsevier
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …
Genetic studies have identified an increasing collection of disease-causing genes. The …
[PDF][PDF] The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster… - 2017 - repository.ubn.ru.nl
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
Эпилепсия у детей и взрослых женщин и мужчин
ВА Карлов - 2019 - elibrary.ru
В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …
The core Dravet syndrome phenotype
C Dravet - Epilepsia, 2011 - Wiley Online Library
Dravet syndrome was described in 1978 by Dravet (1978) under the name of severe
myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed …
myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed …