Keyphrases
Developmental Disabilities
100%
Patients with Epilepsy
100%
Lipoic Acid Synthase
100%
Pathogenic Variants
22%
Phenotypic Spectrum
22%
Related Disorders
22%
Loss Function
11%
Autosomal Recessive
11%
Compound Heterozygous mutation
11%
Seizure
11%
Exome Sequencing
11%
Encoded Protein
11%
Young Female
11%
Poor Growth
11%
Truncation
11%
Novel Variants
11%
Hypotonia
11%
Functional Studies
11%
Yeast Strains
11%
Saccharomyces Cerevisiae
11%
Functional Analysis
11%
Epileptic Encephalopathy
11%
Yeast Model
11%
Baker's Yeast
11%
Infantile Onset
11%
Lactic Acidosis
11%
Mitochondrial Enzymes
11%
Developmental Deficits
11%
Non-ketotic Hyperglycemia
11%
Novel Missense Variant
11%
Lipoic Acid
11%
Psychomotor Delay
11%
Medicine and Dentistry
Synthetase
100%
Developmental Disorder
100%
Patient with Epilepsy
100%
Lipoic Acid
100%
Diseases
30%
Epileptic Seizure
10%
Autosomal Recessive Inheritance
10%
Hypotonia
10%
Exome Sequencing
10%
Brain Disease
10%
Lactic Acidosis
10%
Hyperglycinemia
10%
Mitochondrial Enzyme
10%
Coenzyme
10%
Pharmacology, Toxicology and Pharmaceutical Science
Synthetase
100%
Developmental Disorder
100%
Lipoic Acid
100%
Diseases
30%
Saccharomyces cerevisiae
10%
Muscle Hypotonia
10%
Brain Disease
10%
Lactic Acidosis
10%
Mitochondrial Enzyme
10%
Hyperglycinemia
10%
Biochemistry, Genetics and Molecular Biology
Synthase
100%
Lipoic Acid
100%
Enzyme
10%
Wild Type
10%
Exome Sequencing
10%
Missense
10%
Autosomal Recessive Inheritance
10%
Saccharomyces cerevisiae
10%
Coenzyme
10%