A5044730895- Neuroscience and Neuropharmacology Research
- Epilepsy research and treatment
- Tuberous Sclerosis Complex Research
- Autoimmune Neurological Disorders and Treatments
- Glioma Diagnosis and Treatment
- Genomics and Rare Diseases
- Ion channel regulation and function
- Nicotinic Acetylcholine Receptors Study
- Liver Disease Diagnosis and Treatment
- Chemical Reactions and Isotopes
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Hepatitis C virus research
- Tumors and Oncological Cases
- Renal and related cancers
- Drug-Induced Ocular Toxicity
- Hepatitis B Virus Studies
- Cholinesterase and Neurodegenerative Diseases
Guangdong Province Women and Children Hospital
2019-2023
Second Affiliated Hospital of Fujian Medical University
2019
Fujian Medical University
2019
Guangdong General Hospital
2015
Guangdong Academy of Medical Sciences
2015
Southern Medical University
2015
To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE).Blood samples were collected from 215 NFLE 200 healthy control subjects. Genomic DNA was extracted, whole genome exons amplified by polymerase chain reaction subjected to Sanger sequencing.No detected all of patients. However, five single nucleotide polymorphisms (SNPs) sporadic cases found, located 5, 6, 7 gene. Among them, c.690G>A c.698A>G are known SNPs, while...
Objective To investigate the gene mutations of SCN1A in families with generalized epilepsy febrile seizures plus (GEFS+ ) and analyze genotype-phenotype correlations GEFS+ families. Methods Genomic DNA was extracted from peripheral blood lymphocytes probands other available members families.The phenotypes affected were analyzed.The coding regions flanking intronic screened for using PCR direct sequencing. Results Two 17 families(11.76%) found novel mutations(C142T, S573R),...
Abstract Background The Rho GTPase-activating protein 26 (ARHGAP26) antibody, or anti-Ca, was recently identified as a subacute cerebellar ataxia autoantibody. Medulloblastoma is the most malignant brain tumor in children, with G4 medulloblastoma being common subgroup. Ten cases involving ARHGAP26 autoantibody-associated autoimmune (ACA) have been reported to date, an age of onset 24 84 years. Five patients had history tumors. However, there no case ACA coexisting medulloblastoma. Case...
Abstract Background The Rho GTPase-activating protein 26 (ARHGAP26) antibody, or anti-Ca, was recently identified as a subacute cerebellar ataxia autoantibody. Medulloblastoma is the most malignant brain tumor in children, with G4 medulloblastoma being common subgroup. Ten cases involving ARHGAP26 autoantibody-associated autoimmune (ACA) have been reported to date, an age of onset 24 84 years. Five patients had history tumors. However, there no case ACA coexisting medulloblastoma. Case...