Evidence map›Paper›PMID 38712318›Full record

ReviewBrain communications2024

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.

Irma Järvelä, Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M Leal, Anna-Elina Lehesjoki, Maarit Palomäki, Isabelle Schrauwen

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Brain communications, 2024. 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

9 authors.

Irma JärveläDepartment of Medical Genetics, University of Helsinki, 00251 Helsinki, Finland.ORCID https://orcid.org/0000-0002-1770-6187
Ritva PaetauDepartment of Child Neurology, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland.
Yasmin RajendranCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.ORCID https://orcid.org/0000-0002-1889-8723
Thashi BharadwajCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.ORCID https://orcid.org/0000-0002-7870-5655
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.
Anna-Elina LehesjokiDepartment of Medical Genetics, University of Helsinki, 00251 Helsinki, Finland.ORCID https://orcid.org/0000-0003-4014-3113
Maarit PalomäkiMedical Imaging Center, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland.
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.ORCID https://orcid.org/0000-0001-7310-6082

Funding

Elucidating the Genetic Etiology of Intellectual Disability in African, Asian, and European FamiliesR01HD109342 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL, Isabelle Veerle Suzanne Schrauwen · 2023 to 2026
$2.5M
Exploring the Genomic Dark Matter of Neurodevelopmental DisordersR21NS123325 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SCHRAUWEN, ISABELLE VEERLE SUZANNE · 2022 to 2023
$447k
NICHD NIH HHS R01 HD109342NINDS NIH HHS R21 NS123325
6 · The paper itself

Abstract

Bilateral perisylvian polymicrogyria is the most common form of regional polymicrogyria within malformations of cortical development, constituting 20% of all malformations of cortical development. Bilateral perisylvian polymicrogyria is characterized by an excessive folding of the cerebral cortex and abnormal cortical layering. Notable clinical features include upper motoneuron dysfunction, dysarthria and asymmetric quadriparesis. Cognitive impairment and epilepsy are frequently observed. To identify genetic variants underlying bilateral perisylvian polymicrogyria in Finland, we examined 21 families using standard exome sequencing, complemented by optical genome mapping and/or deep exome sequencing. Pathogenic or likely pathogenic variants were identified in 5/21 (24%) of families, of which all were confirmed as

Indexed as

biparietal perisylvian polymicrogyriade novoexome sequencinggeneoptical genome mapping

Identifiers

PMID38712318
PMCPMC11073749

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.