A5006209792- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Pharmacological Effects and Toxicity Studies
- RNA Interference and Gene Delivery
- RNA Research and Splicing
- Cell Adhesion Molecules Research
- Bacillus and Francisella bacterial research
- Ion channel regulation and function
Shanghai Children's Medical Center
2024
Fujian Medical University
2024
Children's Hospital of Fudan University
2022
Abstract Objectives We aimed to develop consensus on comorbidities (frequency, severity, and prognosis) overall outcomes in epilepsy, development, cognition for the five phenotypes of SCN8A ‐related disorders. Methods A core panel consisting 13 clinicians, 1 researcher, 6 caregivers was formed split into three workgroups. One group focused prognosis. All groups performed a literature review developed questions use modified‐Delphi process. Twenty‐eight one from 16 countries participated...
Abstract Objective We aimed to develop consensus for diagnosis/management of SCN8A ‐related disorders. Utilizing a modified Delphi process, global cohort experienced clinicians and caregivers provided input on diagnosis, phenotypes, treatment, management Methods A Core Panel (13 clinicians, one researcher, six caregivers), divided into three subgroups (diagnosis/phenotypes, comorbidities/prognosis), performed literature review developed questions the process. Twenty‐eight expert 13 from 16...
KCNH5 gene encodes for the voltage-gated potassium channel protein Kv10.2. Here, we investigated clinical features of developmental and epileptic encephalopathy (DEE) in five Chinese pediatric patients with a missense mutation (p.R327H) gene. These had undergone video EEG to evaluate background epileptiform activity, as well 3.0 T MRI scans structural analysis intelligence assessments using Gesell Developmental Observation or Wechsler Intelligence Scale Children. Seizure onset occurs between...
COL4A2 is the encoding gene of α2 chains type IV collagen, and missense mutations correlated with multiple diseases. However, association epilepsy remains elusive. Here, we aimed to explore function in development epilepsy. We performed a full spectrum family-enhanced whole-exome sequencing on family lineage examined genetic change gene. The kainic acid (KA)-induced vivo model lipopolysaccharide (LPS)-induced vitro were established. production secretion inflammation cytokines measured by...