An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Keyphrases

• Neurological Disorders 100%
• Autosomal Dominant 100%
• Ether Lipids 100%
• FAR1 100%
• Plasmalogen 30%
• Patient Fibroblasts 20%
• Spastic Paraparesis 20%
• Juvenile Cataract 20%
• Fibroblasts 10%
• Next-generation Sequencing 10%
• Cerebral Palsy 10%
• Disease Mechanisms 10%
• Functional Studies 10%
• Autosomal Dominant Disorder 10%
• Hereditary Spastic Paraplegia 10%
• Immunofluorescence 10%
• Disease Etiology 10%
• Functional Characterization 10%
• Immunoblotting 10%
• Gene Panel 10%
• Protein Level 10%
• Speech Motor 10%
• Clinical Phenotyping 10%
• Lipid Synthesis 10%
• Gross Motor 10%
• Feedback Regulation 10%
• Hypotonia 10%
• Amino Acid Variation 10%
• Biochemical Phenotype 10%
• Bilateral Cataract 10%
• Lipidomics 10%
• Enzyme Analysis 10%
• Biallelic Variants 10%
• Lipid Production 10%
• Motor Developmental Delay 10%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 100%
• Plasmalogen 100%
• Fibroblast 100%
• Ether Lipid 100%
• Immunofluorescence 33%
• Candidate Gene 33%
• Lipogenesis 33%
• Next Generation Sequencing 33%
• Amino Acids 33%
• Enzyme 33%
• Lipidomics 33%
• Immunoblotting 33%