Evidence map›Paper›PMID 40057591›Full record

ArticleJournal of human genetics2025

Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.

Yosuke Miyamoto, Takenori Tozawa, Eisuke Ichise, Tatsuji Hasegawa, Takahiro Fujimoto, Kyoko Itoh, Masafumi Morimoto, Tomoko Iehara, Tomohiro Chiyonobu

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Article in Journal of human genetics, 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

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.

Yosuke MiyamotoDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Takenori TozawaDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Eisuke IchiseDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Tatsuji HasegawaDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Takahiro FujimotoDepartment of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Kyoko ItohDepartment of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Masafumi MorimotoDepartment of Medical Science, School of Nursing, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Tomoko IeharaDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Tomohiro ChiyonobuDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. chiyono@koto.kpu-m.ac.jp.ORCID http://orcid.org/0000-0001-6678-060X

Funding

MEXT | Japan Society for the Promotion of Science (JSPS) 23K07339
6 · The paper itself

Abstract

AKT3, a key component of the PI3K-AKT-MTOR pathway, is highly expressed in the brain, and its activating variants cause megalencephaly and cortical malformations. In this study, we functionally verified a novel missense AKT3 variant (p.Q78R) identified in a patient with extreme megalencephaly and intractable epilepsy. We transiently transfected HEK-293T cells with the AKT

Indexed as

Drug Resistant EpilepsyMegalencephalyPolymicrogyriaProto-Oncogene Proteins c-aktAllelesGene SilencingHEK293 CellsHumansMechanistic Target of Rapamycin Complex 1Mutation, MissenseRNA, Small InterferingTOR Serine-Threonine KinasesAKT3 protein, humanMechanistic Target of Rapamycin Complex 1Proto-Oncogene Proteins c-aktRNA, Small InterferingTOR Serine-Threonine Kinases

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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.