Objective To investigate the clinical features and genetic characteristics of West syndrome(WS)caused by CLCN6 mutations.Methods A case of WS caused by CLCN6 mutations was reported.And the literatures were reviewed.The clinical features and gene mutation characteristics of CLCN6 associated WS were analyzed.Results This patient,a male,presented with symptoms at 7 months of age,and exhibited clinical features including spasms,developmental delay,and high-amplitude disorganized of EEG.At 11 months of age,a combination of topiramate and clonazepam controlled the seizures.By 1-year-old,the EEG normalized,and at 39 months of age,the patient discontinued medication without experiencing further seizures;however,language development remained delayed.Whole exome sequencing identified a de novo missense mutation in CLCN6(c.761T＞C,p.F54S),which was highly conserved.Multiple online prediction tools classified this mutation as deleterious.According to the guidelines of the American college of medical genetics and genomics,this variant was classified as likely pathogenic(PS2+PM2+PP3).A literature review included three cases(including this one).Clinical features included spasms(3/3,with 2 cases evolved into tonic-clonic and myoclonic seizures),intellectual or global developmental delay(3/3),behavioral disorders(1/3),sleep disorders(1/3),visual impairment(1/3),microcephaly(2/3),high-amplitude disorganized of EEG(3/3),and enlarged subarachnoid spaces on head MRI(2/3).After treatment,seizures in one patient were controlled,while two cases developed drug-resistant epilepsy.The CLCN6 mutations reported include c.533A＞C,c.599A＞C,and c.761T＞C,all of which are de novo missense mutations located in the transmembrane domains.Conclusions WS caused by CLCN6 mutations is associated with a poor neurodevelopmental prognosis.The mutations are primarily de novo missense mutations.Early genetic diagnosis is crucial for improving the prognosis.

Objective To investigate the clinical features and genetic characteristics of West syndrome(WS)caused by CLCN6 mutations.Methods A case of WS caused by CLCN6 mutations was reported.And the literatures were reviewed.The clinical features and gene mutation characteristics of CLCN6 associated WS were analyzed.Results This patient,a male,presented with symptoms at 7 months of age,and exhibited clinical features including spasms,developmental delay,and high-amplitude disorganized of EEG.At 11 months of age,a combination of topiramate and clonazepam controlled the seizures.By 1-year-old,the EEG normalized,and at 39 months of age,the patient discontinued medication without experiencing further seizures;however,language development remained delayed.Whole exome sequencing identified a de novo missense mutation in CLCN6(c.761T＞C,p.F54S),which was highly conserved.Multiple online prediction tools classified this mutation as deleterious.According to the guidelines of the American college of medical genetics and genomics,this variant was classified as likely pathogenic(PS2+PM2+PP3).A literature review included three cases(including this one).Clinical features included spasms(3/3,with 2 cases evolved into tonic-clonic and myoclonic seizures),intellectual or global developmental delay(3/3),behavioral disorders(1/3),sleep disorders(1/3),visual impairment(1/3),microcephaly(2/3),high-amplitude disorganized of EEG(3/3),and enlarged subarachnoid spaces on head MRI(2/3).After treatment,seizures in one patient were controlled,while two cases developed drug-resistant epilepsy.The CLCN6 mutations reported include c.533A＞C,c.599A＞C,and c.761T＞C,all of which are de novo missense mutations located in the transmembrane domains.Conclusions WS caused by CLCN6 mutations is associated with a poor neurodevelopmental prognosis.The mutations are primarily de novo missense mutations.Early genetic diagnosis is crucial for improving the prognosis.

Epilepsy is one of the most common neurological diseases, affecting about 70 million people worldwide, more than half of whom are children.Even though seizure-free is largely achieved by anti-seizure medications, there are still one-third of patients with epilepsy who continue to experience seizure attacks and develop into refractory epilepsy(RE). RE can seriously impair the life-quality of children and their families, and impose a substantial burden on society.Therefore, it is of great significance to explore and discover novel therapeutic methods and strategies for RE in children.This review is aimed to introduce several current and emerging therapeutic approaches for RE, including some new anti-seizure medications, ketogenic diet, neurosurgery, neurostimulation and emerging precision medicine, and provide new treatment strategy to children with RE.

Objective: To study the psychological and behavioral problems of children with tic disorders (TD), and to identify related influencing factors for effective medical intervention strategies. Methods: From June 2020 to June 2021, 69 children with TD were randomly selected as the case group in the pediatric neurologic clinic, while the control group included 69 healthy children who were matched by gender and age. The data were obtained through general questionnaire, Screen for Child Anxiety Related Emotional Disorders-41 (SCARED-41), Strengths and Difficulties Questionnaire-25 (SDQ-25) and the Children s Depression Inventory-Short Form (CDI-10), while psychological and behavioral problems and their related risk factors were analyzed. Results: The total scores of SCARED-41, SDQ-25 and its difficulties scale, and CDI-10 were (22.1±12.5,13.3±12.3) (21.1±6.0,15.9±3.4) ( 15.6± 6.3,9.3±3.6) (3.7±2.9,2.6±2.9) in the TD and control group respectively, with significant differences ( t/Z =3.8, 13.9, 6.9, -2.6, P <0.05). According to multiple linear regression of children in the TD group, statistically significant effects of maternal bachelor degree on SDQ-25 emotional symptoms, associate degree on SDQ-25 prosocial behavior ( B =-2.20, 2.14), lenient parenting attitude on SCARED-41 general anxiety, worry on SDQ-25 hyperactivity ( B =-7.44, 3.00), time spent on electronic devices on SCARED-41 somatic/panic, school phobia and SDQ-25 conduct problems ( B =0.49, 0.30, 0.20) and exercise intensity of small intensity on CDI-10 ( B =-0.15)were observed ( P <0.05). Conclusion Children with TD are prone to emotional disturbances such as anxiety, depression and behavioral problems, all of which are related to their mothers educational background, parents attitude towards discipline, the duration of electronic device use and exercise intensity.