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Developmental and epileptic encephalopathies: what we do and do not know
N Specchio, P Curatolo - Brain, 2021 - academic.oup.com
Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
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 …
Alterations in GABAA-Receptor Trafficking and Synaptic Dysfunction in Brain Disorders
GABAA receptors (GABAAR) are the major players in fast inhibitory neurotransmission in the
central nervous system (CNS). Regulation of GABAAR trafficking and the control of their …
central nervous system (CNS). Regulation of GABAAR trafficking and the control of their …
Integrative structural, functional, and transcriptomic analyses of sex-biased brain organization in humans
Humans display reproducible sex differences in cognition and behavior, which may partly
reflect intrinsic sex differences in regional brain organization. However, the consistency …
reflect intrinsic sex differences in regional brain organization. However, the consistency …
Rates of status epilepticus and sudden unexplained death in epilepsy in people with genetic developmental and epileptic encephalopathies
AM Donnan, AL Schneider, S Russ-Hall, L Churilov… - Neurology, 2023 - neurology.org
Background and Objectives The genetic developmental and epileptic encephalopathies
(DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic …
(DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic …
Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder
N Hoshina, EM Johnson-Venkatesh, M Hoshina… - Science, 2021 - science.org
INTRODUCTION Mutations of the X-linked Protocadherin-19 (PCDH19) gene cause
PCDH19 disorder with epilepsy. PCDH19 disorder is often associated with cognitive …
PCDH19 disorder with epilepsy. PCDH19 disorder is often associated with cognitive …
[HTML][HTML] Deriving early single-rosette brain organoids from human pluripotent stem cells
Brain organoid methods are complicated by multiple rosette structures and morphological
variability. We have developed a human brain organoid technique that generates self …
variability. We have developed a human brain organoid technique that generates self …
Proteomic analysis of the develo** mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway
R de Nys, A Gardner, C van Eyk… - Molecular …, 2024 - nature.com
Clustering Epilepsy (CE) is a neurological disorder caused by pathogenic variants of the
Protocadherin 19 (PCDH19) gene. PCDH19 encodes a protein involved in cell adhesion …
Protocadherin 19 (PCDH19) gene. PCDH19 encodes a protein involved in cell adhesion …
Fundamental Neurochemistry Review: GABAA receptor neurotransmission and epilepsy: Principles, disease mechanisms and pharmacotherapy
Epilepsy is a common neurological disorder associated with alterations of excitation‐
inhibition balance within brain neuronal networks. GABAA receptor neurotransmission is the …
inhibition balance within brain neuronal networks. GABAA receptor neurotransmission is the …
PCDH19-related epilepsy syndrome: a comprehensive clinical review
D Samanta - Pediatric neurology, 2020 - Elsevier
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by
brief clusters of febrile and afebrile seizures with onset primarily before the age of three …
brief clusters of febrile and afebrile seizures with onset primarily before the age of three …