ArticleBrain : a journal of neurology2022
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Article in Brain : a journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 10 citations in OpenAlex.
- Preclinical efficacy of a gene therapy forMolecular therapy. Advances · 2026Article
- Biosynthesis of Phosphatidylethanolamine and Phosphatidylcholine via the Kennedy Pathway in Cancer and Other Pathological Conditions.International journal of molecular sciences · 2026Review
- Reprogramming lipid metabolism in virus-infected neuronal cells.Research square · 2026Article
- Integrated transcriptomics, proteomics, and metabolomics analysis reveals newcastle disease virus reshapes glycerophospholipid metabolism.BMC genomics · 2026Article
- Phosphoethanolamine: a translational journey from biological process and physiopathological effects to therapeutical innovation - a mini-review.Frontiers in pharmacology · 2026Review
- EEG microstates, spectral analysis, and risk prediction in epilepsy comorbid with mild cognitive impairment: alteration in intrinsic brain activity.Journal of translational medicine · 2025Article
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.Medicine · 2025Review
- Choline kinase alpha genotype is related to hippocampal brain volume and cognition in postmenopausal women.Heliyon · 2024Article
- Article
- Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.Archives of biochemistry and biophysics · 2022Article
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Authors and funding
29 authors at 14 institutions in 9 countries.
Funding
Abstract
The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten genes involved have been associated with a range of autosomal recessive rare diseases such as a neurodevelopmental disorder with muscular dystrophy (CHKB), bone abnormalities and cone-rod dystrophy (PCYT1A) and spastic paraplegia (PCYT2, SELENOI). We identified six individuals from five families with bi-allelic variants in CHKA presenting with severe global developmental delay, epilepsy, movement disorders and microcephaly. Using structural molecular modelling and functional testing of the variants in a cell-based Saccharomyces cerevisiae model, we determined that these variants reduce the enzymatic activity of CHKA and confer a significant impairment of the first enzymatic step of the Kennedy pathway. In summary, we present CHKA as a novel autosomal recessive gene for a neurodevelopmental disorder with epilepsy and microcephaly.
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