Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

Keyphrases

• Epilepsy Patients 100%
• Tricarboxylic Acid Cycle (TCA cycle) 100%
• SLC13A5 100%
• Citrate 50%
• Metabolism 25%
• Mass Spectrometry 25%
• Dysregulation 25%
• Dysregulated 25%
• Missense mutation 25%
• Metabolic Profiling 25%
• Psychomotor Retardation 25%
• Nonsense mutation 25%
• Citric Acid Cycle 25%
• Metabolic Compartmentation 25%
• Rare mutation 25%
• Metabolic Signature 25%
• Infantile Epileptic Encephalopathy 25%
• Global Developmental Delay 25%
• Neonatal Onset Seizures 25%

Pharmacology, Toxicology and Pharmaceutical Science

• Tricarboxylic Acid 100%
• Disease 33%
• Brain Disease 33%
• Psychomotor Retardation 33%
• Developmental Delay 33%
• Citrate 33%

Biochemistry, Genetics and Molecular Biology

• Citric Acid Cycle 100%
• Blood Plasma 50%
• Metabolic Pathway 25%
• Mass Spectrometry 25%
• Missense Mutation 25%
• Nonsense Mutation 25%