A Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype.

Introduction: O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with KMT2E gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and macrocephaly or microcephaly; in some patients, it may manifest as autism or epilepsy.

Methods: Trio whole-exome sequencing was performed on a female infant with unexplained West syndrome and developmental regression.

Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature.

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5, leading to the degeneration of lower motor neurons. There are few studies on cognitive impairment comorbid with SMA. Here, we report two cases of severe cognitive impairment in Chinese children with SMA type 1, marking the first such reports in this demographic.

Ultrasound-targeted microbubble destruction rapidly improves left ventricular function in rats with ischemic cardiac dysfunction.

Background: Previous studies have demonstrated the efficacy of ultrasound-targeted microbubble destruction (UTMD) in the treatment of ischemic heart failure (HF). The purpose of this study was to explore the mechanism by which UTMD improves ischemic HF.

Methods: An ischemic heart failure model was established using Sprague-Dawley rats.

Ferroptosis and Pyroptosis in Epilepsy.

Epilepsy is sudden, recurrent, and transient central nervous system dysfunction caused by abnormal discharge of neurons in the brain. Ferroptosis and pyroptosis are newly discovered ways of programmed cell death. One of the characteristics of ferroptosis is the oxidative stress generated by lipid peroxides.

A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic mutations in adenosine deaminase 2 (ADA2). The varying phenotypes of the disease often lead to delayed diagnosis or misdiagnosis. We report an 11-year-old boy with DADA2 and provide a preliminary analysis of genotype-phenotype correlation.

Analysis of the relation between cerebrospinal fluid antibody titers and clinical characteristics in pediatric patients with anti-N-methyl-D-aspartate receptor encephalitis.

Objective: This retrospective study aimed to investigate the relationship between cerebrospinal fluid (CSF) antibody titers of N-methyl-d-aspartate receptor (NMDAR), and clinical characteristics in pediatric patients with anti-NMDAR encephalitis.

Methods: The clinical and laboratory characteristics of hospitalized patients with anti-NMDAR encephalitis, stratified by antibody titers in CSF and disease severity, were retrospectively studied. The demographics, clinical characteristics, main accessory examinations, immunotherapy, and prognosis of patients were recorded, and each observed indicator was statistically analyzed.

Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study.

Background: Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course. However, there are currently no clinical studies regarding the improvement in motor function and nutritional status of patients after loading period treatment with nusinersen.

Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report.

Background: As sequencing technology has advanced in recent years, a series of synapse-related gene variants have been reported to be associated with autism spectrum disorders (ASDs). The α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor is a subtype of the ionotropic glutamate receptor, whose number or composition changes can regulate the strength and plasticity of synapses.

Case Presentation: Here, we report a de novo GRIA2 variant (NM_001083619.

Clinical implementation of ketogenic diet in children with drug-resistant epilepsy: Advantages, disadvantages, and difficulties.

Purpose: Ketogenic diet (KD) is a well-established nonpharmacologic treatment for drug-resistant epilepsy. However, although KD has a long history of clinical use, there are still many difficulties with its real-world practice. This study retrospectively described the situation of KD practice in two children's hospitals in Southwest China.

Gut flora and metabolism are altered in epilepsy and partially restored after ketogenic diets.

Objective: The aim of this study was to investigate the composition of the intestinal microbiota and its association with fecal short chain fatty acids (SCFAs) in children with drug refractory epilepsy (DRE) before and after treatment with a ketogenic diet (KD).

Methods: Herein, we conducted a cross-sectional study of 12 children with DRE and 12 matched healthy controls to compare the changes in fecal microbiomes and SCFAs. Disease cohort also underwent analysis before and after 6 months of KD treatment.

miR-384-5p promotes spinal cord injury recovery in rats through suppressing of autophagy and endoplasmic reticulum stress.

Background: Spinal cord injury (SCI) is one of the most serious neurological disorders and is characterized by high morbidity and disability. Unfortunately, there is a lack of effective treatment. Recently, the micro RNA, miR-384-5p, was reported to play a significant role in cell survival in response to different insults.

Expression and functional analysis of lncRNAs in the hippocampus of immature rats with status epilepticus.

Long non-coding RNAs (lncRNAs) have been implicated in the regulation of gene expression at various levels. However, to date, the expression profile of lncRNAs in status epilepticus (SE) was unclear. In our study, the expression profile of lncRNAs was investigated by high-throughput sequencing based on a lithium/pilocarpine-induced SE model in immature rats.

Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms.

Introduction: Over the past 10 years, epilepsy genetics has made dramatic progress. This study aimed to analyze the knowledge structure and the advancement of epilepsy genetics over the past decade based on co-word analysis of medical subject headings (MeSH) terms.

Methods: Scientific publications focusing on epilepsy genetics from the PubMed database (January 2009-December 2018) were retrieved.

The role of necroptosis in status epilepticus-induced brain injury in juvenile rats.

Purpose: To study the role of necroptosis in status epilepticus (SE)-induced injury in the developing brain and the possible associations of necroptosis with epileptogenesis and cognitive dysfunction.

Methods: The lithium-pilocarpine epilepsy model was reproduced in male rats at postnatal day 25. Propidium iodide (PI) staining was used to detect cell death after SE.

miR-96 attenuates status epilepticus-induced brain injury by directly targeting Atg7 and Atg16L1.

Status epilepticus (SE) can cause brain damage and lead to neural dysfunction. Developing novel targets for SE therapy and diagnosis is important and necessary. Previously, we found several differentially expressed microRNAs (miRNAs) in the developing hippocampus following SE, including the autophagy-related miR-96.

Safety and tolerability of the ketogenic diet used for the treatment of refractory childhood epilepsy: a systematic review of published prospective studies.

Background: To review the available evidence from prospective studies on the safety and tolerability of the ketogenic diet (KD) for the treatment of refractory childhood epilepsy.

Methods: A comprehensive bibliographic search was performed with the aim of retrieving prospective studies that monitored adverse effects (AEs) in children after receiving the classic or medium-chain triglyceride KD therapy for refractory epilepsy.

Results: A total of 45 studies were retrieved, including 7 randomized controlled trials.

Visualization and quantitation of fetal movements by real-time three-dimensional ultrasound with live xPlane imaging in the first trimester of pregnancy.

Aim: To prove whether real-time three-dimensional (3D) ultrasound with live xPlane imaging is better in observing fetal movements than standard ultrasound imaging.

Methods: 50 healthy women with singleton pregnancies (22-43 years old) at 11 to 14 weeks of gestation underwent real-time 3D ultrasound examination with live xPlane imaging from July 2014 to February 2015. The incidence and frequency of 10 fetal movement patterns in 10 minutes were evaluated, including general movements (GMs), isolated arm movements, isolated leg movements, hiccup, stretching, breathing, startle, jaw opening, isolated head retroflexion, and isolated head anteflexion.

A Cross-sectional Survey of Growth and Nutritional Status in Children With Cerebral Palsy in West China.

Background: We describe the growth and nutritional status of children with cerebral palsy (2 to 18 years old) in West China and to explore the correlation between the nutritional status and age, gender, and gross and fine motor function.

Methods: We performed a cross-sectional survey of children registered as having cerebral palsy in the China Disabled Persons' Federation branch in Chengdu. Growth (height and weight) and nutritional (body mass index) status were recorded.

Kawasaki disease mimicking a parapharyngeal abscess: a case report.

Parapharyngeal abscess (PPA)-like lesion is a very rare manifestation of Kawasaki disease (KD). Here we report a Chinese case of KD initially mimicking PPA, which is the first one reported in Asia.A 3-year-old male patient presented with fever, drooling, and bilateral painful cervical lymphadenopathy for 3 days.

[Roles of microRNAs in epilepsy].

MicroRNAs (miRNAs) are short, noncoding RNAs that function as posttranscriptional regulators of gene expression by controlling the translation of messenger RNAs. Epilepsy is a chronic and debilitating brain disorder and occurs frequently in childhood. The brain expresses several unique miRNAs which are associated with epileptogenesis.