ArticleChild neurology open2019
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.
Article in Child neurology open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Case Report of Dual Variants inClinical case reports · 2026Article
- SLC1A4 and Serine Homeostasis: Implications for Neurodevelopmental and Neurodegenerative Disorders.International journal of molecular sciences · 2025Review
- Machine learning-based prediction of disease progression in primary progressive multiple sclerosis.Brain communications · 2025Article
- Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.Annals of clinical and translational neurology · 2023Article
- Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM).Research square · 2023Article
- Novel compound heterozygous variants (c.971delA/c.542C > T) inFrontiers in pediatrics · 2023Article
- Glutathione Depletion and MicroRNA Dysregulation in Multiple System Atrophy: A Review.International journal of molecular sciences · 2022Review
- Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.Journal of inherited metabolic disease · 2022Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- Comparative Proteome Research in a Zebrafish Model for Vanishing White Matter Disease.International journal of molecular sciences · 2021Article
- A structural view onto disease-linked mutations in the human neutral amino acid exchanger ASCT1.Computational and structural biotechnology journal · 2021Article
- Expanding the Phenotypic Spectrum ofJournal of investigative medicine high impact case reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is a recently described very rare autosomal recessive neurodevelopmental disorder. This disease was first described in 2015 in several families from the Ashkenazi Jewish ancestry with a founder mutation in
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.