Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Medicine & Life Sciences

• Aspartate-Ammonia Ligase 100%
• Microcephaly 71%
• Whole Exome Sequencing 69%
• Brain Diseases 55%
• Mutation 32%
• Brain 11%
• Intellectual Disability 11%
• Cysteine 11%
• Tyrosine 10%
• Genes 9%
• Seizures 9%
• Child 5%
• Proteins 4%

Chemistry

• Asparagine 68%
• Mutation 49%
• Disorder 30%
• Substitution Reaction 14%
• Tyrosine Residue 13%
• Protein Structure 11%
• Molecular Modeling 10%
• Cysteine 10%
• Enzyme Activity 9%