Publications by authors named "Ju-li Wang"

Article Synopsis
  • EP400 is a gene that encodes an essential protein for ATP-dependent chromatin remodeling, and its role in diseases is not well understood, although this study suggests a link to epilepsy and neurodevelopmental disorders (NDDs).
  • Researchers conducted whole-exome sequencing on 402 families and found EP400 variants associated with individuals experiencing epilepsy and NDDs, with some variants being inherited and others newly formed.
  • The study also demonstrated that EP400 is crucial during brain development, particularly in neurons, and its deficiency can lead to significant neurological issues, making it a potentially key player in these conditions.
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Objective: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism.

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Background: In March 2020, the World Health Organization (WHO) declared COVID-19 a public health emergency of international concern. A small proportion of patients infected with COVID-19 go on to develop pneumonia. We speculated that COVID-19 may be likely to result in psychological disorders such as anxiety and depression.

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PRRT2 mutations are the major causative agent of paroxysmal kinesigenic dyskinesia with infantile convulsion (PKD/IC). The study is aimed at screening PRRT2 gene mutations in patients who suffered from PKD/IC in Chinese population. Thirteen Chinese patients with PKD/IC were screened randomly for coding exons of the PRRT2 gene mutation along with 50 ethnically coordinated control people.

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Objective: To study the effect of CACNA1H gene mutation G773D on calcium channel function.

Methods: By the overlap extension PCR we introduced G773D mutation into a human Cav3.2acDNA for constructing the mutant.

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Epilepsy is a kind of brain dysfunction syndrome caused by so many reasons instead of a certain disease. Abnormal neuron discharge can cause epilepsy. Idiopathic epilepsy refers to epilepsy or epilepsy syndrome without any latent reasons but inherited trait.

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Objective: Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). It is considered to be a hereditary disease. The possible inheritance pattern of CAE is polygenic.

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