A5041452162- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- CRISPR and Genetic Engineering
- Congenital heart defects research
- Glycosylation and Glycoproteins Research
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Virus-based gene therapy research
- Metabolism and Genetic Disorders
- interferon and immune responses
- Autism Spectrum Disorder Research
- RNA regulation and disease
- Polyomavirus and related diseases
- Viral Infections and Immunology Research
- Biochemical and Molecular Research
- Protein Tyrosine Phosphatases
University of Sfax
2017-2024
Hopital Universitaire Hedi Chaker
2017-2023
Abstract Introduction West Syndrome is a severe epileptic encephalopathy characterized by spasms, hypsarrhythmia, and regression of psychomotor acquisitions beginning in the first year life. ARX CDKL5 genes were identified as linked to most frequent genetic causes Syndrome. Methods The present study reports clinical, molecular bioinformatic investigation patient with syndrome. Results Molecular analysis two candidate genes, i.e. showed presence novel insertion c.2788insG exon 19 gene. This...
Abstract Metachromatic leukodystrophy (MLD) is a severe metabolic disorder caused by the deficient activity of arylsulfatase A due to ARSA gene mutations. According age onset, MLD classified into three forms: infantile, juvenile, and adult. In our study, we aimed perform genetic analysis for two siblings with juvenile better characterization molecular mechanisms behind disease. consanguineous family including patients (PII.1 PII.2) was enrolled in study. The diagnosis made based on clinical...