Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.

Objective: To summarize the clinical features and genetic mutation characteristics of Chinese children with KCNQ2-related epilepsy.

Methods: A cohort of children with genetically caused epilepsy was evaluated at Linyi People's Hospital from January 2017 to December 2023. After next-generation sequencing and pathogenicity analysis, we summarized the medical records and genetic testing data of the children who had KCNQ2 gene mutations.

Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.

Introduction: Increasing evidence reveals critical roles for CHD2 in children with developmental and epileptic encephalopathy.

Objectives: The aim was to present clinical analysis results of five cases with CHD2 mutations and 157 reported cases with non-copy number variations (non-CNV) of CHD2.

Methods: This study recruited pediatric epilepsy patients with CHD2 mutations and clinical data from November 2016 to October 2023 in the Linyi People's Hospital, China.

[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].

Objective: To explore the clinical features and genetic etiology of a child with SPONASTRIME dysplasia (SD).

Methods: A 9-month-old female who had presented at the Linyi People's Hospital in August 2022 for short stature was selected as the study subject. Clinical data of the child were collected, and whole exome sequencing (WES) was carried out.

[Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene].

Objective: To explore the clinical features and genetic etiology of a child with Baraitser-Winter syndrome (BWS).

Methods: A BWS child who had sought medical attention at the Linyi People's Hospital on April 8, 2022 was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples were obtained from the child and his parents.

[Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene].

Objective: To explore the clinical and genetic characteristics of five children with epilepsies due to variants of SCN8A gene.

Methods: Clinical data of five children (four males and one female) admitted to Linyi People's Hospital due to hereditary epilepsies between August 2015 and August 2022 were collected. Whole exome sequencing was carried out for these children, and candidate variants were verified by Sanger sequencing.

Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.

Purpose: Seizure threshold 2 protein homolog gene (SZT2, MIM: 615463) related diseases are extremely rare autosomal recessive disorders with a wide spectrum of clinical phenotypes ranging from mild intellectual impairment to severe developmental epileptic encephalopathy (DEE). Most SZT2 related diseases are accompanied by craniofacial malformation and corpus callosum malformation. This study attempts to analyze and summarize the clinical phenotype and genetic characteristics of SZT2 related diseases, providing a basis for early diagnosis, treatment, and prognosis.

[Genetic analysis and prenatal diagnosis of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 due to variants of PIGT gene].

Objective: To explore the clinical features and genetic etiology of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 (MCAHS3) and provide prenatal diagnosis for her parents.

Methods: A female child who had presented at Linyi People's Hospital on 27 July 2022 for recurrent convulsions for over 4 years was selected as the study subject. Clinical data of the child were collected.

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.

Background: Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM-2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and so on. Here, we present a novel heterozygous ATP1A2 variant in a girl with alternating hemiplegia, febrile seizures, developmental delay (which subsequently subsided), and MELAS-like syndrome (as indicated by brain MRI). The patient did not experience migraine with aura.

A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.

Introduction: G elongation factor mitochondrial 1 (GFM1) encodes one of the mitochondrial translation elongation factors. GFM1 variants were reported to be associated with neurological diseases and liver diseases in a few cases. Here, we present a novel composition of two heterozygous mutations of GFM1 in a boy with epilepsy, mental retardation, and other unusual phenotypes.

Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Background: Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2-related mutations in Chinese epilepsy children.

Methods: A total of 492 children with epilepsy were analyzed by whole exome sequencing (WES) and low-coverage massively parallel CNV sequencing (CNV-seq) to find the single nucleotide variants and copy number variations (CNVs).

Conventional vs. pulsed-light accelerated corneal collagen cross-linking for the treatment of progressive keratoconus: 12-month results from a prospective study.

The aim of the present study was to compare the clinical outcomes of conventional corneal collagen cross-linking (CXL) and pulsed-light accelerated CXL (pl-ACXL) in the eyes of patients with progressive keratoconus. A total of 72 eyes with progressive keratoconus in 58 patients were equally divided into the CXL and pl-ACXL treatment groups. The CXL treatment was performed using the UVX 1000 system with 0.

Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population.

Although Tourette syndrome (TS) is a chronic neuropsychiatric disorder whose pathogenesis remains unclear, genetic factors play an important role in the occurrence and development. A variety of studies have been shown that the candidate genes related to cholinergic neurons may be associated with the onset of TS. To investigate the association between the SLC5A7 polymorphisms and Tourette syndrome (TS) in the Chinese Han population, the SNP rs1013940, rs2433718, and rs4676169 were genotyped in 401 TS trios and 400 controls.

Therapeutic and inducing effect of corneal crosslinking on infectious keratitis.

The corneal crosslinking (CXL) with riboflavin and ultraviolet-A (UVA) is a new therapy method to successfully treat infectious keratitis in clinical practice. However, there are rare reports on the complications of CXL such as the secondary keratitis. The diverse clinical outcomes on keratitis have highlighted the necessity to further evaluate the efficacy and complications of CXL.

[Effects of macrophage migration inhibitory factor in pathogenesis of acute respiratory distress syndrome in children].

Objective: Acute respiratory distress syndrome (ARDS) is usually diagnosed on the basis of clinical manifestations. However, a sensitive and effective biochemical index is important for early diagnosis of ARDS. It has been confirmed that macrophage migration inhibitory factor (MIF) expression is increased in patients with ARDS (adults and children).