Evidence map›Paper›PMID 42728308›Full record

ArticleJournal of human genetics2026

Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy.

Mark Mencias, Meneka Kanagaratnam, Emma Matthews

Abstract read
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Article in Journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Mark MenciasAtkinson-Morley Neuromuscular Centre, Department of Neurology, St George's University Hospitals NHS Foundation Trust, and Department of Psychology and Neuroscience, St George's School of Health and Medical Sciences, City St George's, University of London Cranmer Terrace, London, UK.
Meneka KanagaratnamAtkinson-Morley Neuromuscular Centre, Department of Neurology, St George's University Hospitals NHS Foundation Trust, and Department of Psychology and Neuroscience, St George's School of Health and Medical Sciences, City St George's, University of London Cranmer Terrace, London, UK.
Emma MatthewsAtkinson-Morley Neuromuscular Centre, Department of Neurology, St George's University Hospitals NHS Foundation Trust, and Department of Psychology and Neuroscience, St George's School of Health and Medical Sciences, City St George's, University of London Cranmer Terrace, London, UK. ematthew@citystgeorges.ac.uk.ORCID http://orcid.org/0000-0002-3810-306X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Only 14 individuals have been thus far described with GlyT1 encephalopathy due to biallelic variants in the SLC6A9 gene and the phenotypic picture is incomplete. Early mortality has been high, with only two known to survive into infancy. We report a 27-year-old individual who, to our knowledge, is the eldest person described with this ultra-rare disorder and who brings new phenotypic insights alongside potential prognosis for younger individuals. He is compound heterozygous for two novel SLC6A9 variants. He shares many unifying clinical features, including neonatal hypotonia with later hypertonicity, respiratory failure, exaggerated startle and arthrogryposis. Clinical course stabilised after early childhood. Perampanel was of significant benefit for the exaggerated startle. Significant visual loss is unexplained. It may relate to the essential role of GlyT1 in retinal amacrine cells, although this mechanism remains speculative.

Identifiers

PMID42728308

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Registered trials

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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.