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Genetic testing for the epilepsies: a systematic review
Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …
the past decade without clear guidelines regarding optimal testing strategies. We performed …
Neurophysiological findings in neuronal ceroid lipofuscinoses
M Trivisano, A Ferretti, C Calabrese… - Frontiers in …, 2022 - frontiersin.org
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative
diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder …
diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder …
A multi-disciplinary team approach to genomic testing for drug-resistant epilepsy patients—the GENIE study
L Vadlamudi, CM Bennett, M Tom… - Journal of Clinical …, 2022 - mdpi.com
Background. The genomic era has led to enormous progress in clinical care and a multi-
disciplinary team (MDT) approach is imperative for integration of genomics into epilepsy …
disciplinary team (MDT) approach is imperative for integration of genomics into epilepsy …
Next-generation sequencing technologies and neurogenetic diseases
H Sun, XR Shen, ZB Fang, ZZ Jiang, XJ Wei, ZY Wang… - Life, 2021 - mdpi.com
Next-generation sequencing (NGS) technology has led to great advances in understanding
the causes of Mendelian and complex neurological diseases. Owing to the complexity of …
the causes of Mendelian and complex neurological diseases. Owing to the complexity of …
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
K Gall, E Izzo, EH Seppälä, K Alakurtti, L Koskinen… - PLoS …, 2021 - journals.plos.org
Epilepsy is one of the most common childhood-onset neurological conditions with a genetic
etiology. Genetic diagnosis provides potential for etiologically-based management and …
etiology. Genetic diagnosis provides potential for etiologically-based management and …
Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications
Objective There has been increasing utilization of genetic testing for pediatric epilepsy in
recent years. Little systematic data is available examining how practice changes have …
recent years. Little systematic data is available examining how practice changes have …
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway
I Stenshorne, M Syvertsen, A Ramm-Pettersen… - Frontiers in …, 2022 - frontiersin.org
Introduction Developmental and epileptic encephalopathies (DEE) is a group of epilepsies
where the epileptic activity, seizures and the underlying neurobiology contributes to …
where the epileptic activity, seizures and the underlying neurobiology contributes to …
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies
M Mazurkiewicz-Bełdzińska, M Del Toro… - Expert Review of …, 2021 - Taylor & Francis
Introduction Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric
neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of …
neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of …
[HTML][HTML] Developmental and epileptic encephalopathies after negative or inconclusive genetic testing: what is next?
A Aledo-Serrano, R Sánchez-Alcudia… - Journal of …, 2021 - oaepublish.com
The redefinition of classical electroclinical syndromes and the emergence of neurogenetics
has led to a revolution in the field of developmental and epileptic encephalopathies (DEEs) …
has led to a revolution in the field of developmental and epileptic encephalopathies (DEEs) …
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
T Baranzehi, DM Kordi-Tamandani, M Najafi… - Journal of Clinical …, 2022 - mdpi.com
Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is
caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and …
caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and …