Evidence map›Paper›PMID 40192980›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025

"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation.

Sameer Peer, Arvinder Wander, Ankit Kumar Meena

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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. 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
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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

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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.

Sameer PeerDepartment of Radiodiagnosis, All India Institute of Medical Sciences, Bathinda, Punjab, 151001, India. sameer.peer602@gmail.com.ORCID http://orcid.org/0000-0002-7674-5004
Arvinder WanderChild Neurology Division, Department of Pediatrics and Pediatric Neurology, All India Institute of Medical Sciences, Bathinda, Punjab, 151001, India.
Ankit Kumar MeenaChild Neurology Division, Department of Pediatrics and Pediatric Neurology, All India Institute of Medical Sciences, Bathinda, Punjab, 151001, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked lissencephaly is associated with a hemizygous mutation in DCX gene located on the X-chromosome. DCX mutation causes classic lissencephaly in males and subcortical laminar heterotopia in females. Neuronal migration arrest leads to pachygyria and the arrested neurons are noted along the path of neuronal migration between the periventricular region and the cortex. Diffusion tensor imaging in cases of lissencephaly shows abnormal radial arrangement of fibers within the cortex in a "hairon-end" pattern. We demonstrate this "hair-on-end" pattern of fibers within the thickened cortex in a case of lissencephaly due to a pathogenic mutation in DCX gene confirmed on next generation whole exome sequencing.

Indexed as

Cerebral CortexClassical Lissencephalies and Subcortical Band HeterotopiasLissencephalyMicrotubule-Associated ProteinsMutationNeuropeptidesDiffusion Tensor ImagingDoublecortin Domain ProteinsDoublecortin ProteinHumansDCX protein, humanDoublecortin Domain ProteinsDoublecortin ProteinMicrotubule-Associated ProteinsNeuropeptidesDiffusion tensor imagingLissencephalyNeuronal migration

Identifiers

PMID40192980

What OpenQuestion holds

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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.