Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.

Nature medicine - 1 Dec 2015

Baek Seung Tae, Copeland Brett, Yun Eun-Jin, Kwon Seok-Kyu, Guemez-Gamboa Alicia, Schaffer Ashleigh E, Kim Sangwoo, Kang Hoon-Chul, Song Saera, Mathern Gary W, Gleeson Joseph G

Abstract excerpt

Focal malformations of cortical development (FMCDs) account for the majority of drug-resistant pediatric epilepsy. Postzygotic somatic mutations activating the phosphatidylinositol-4,5-bisphosphate-3-kinase (PI3K)-protein kinase B (AKT)-mammalian target of rapamycin (mTOR) pathway are found in a wide range of brain diseases, including FMCDs. It remains unclear how a mutation in a small fraction of cells disrupts...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Adhesion Molecules, Neuronal
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Malformations of Cortical Development

Share to Mosaicism

Share to Neural Stem Cells

Share to Reelin Protein

Share to Serine Endopeptidases

Share to TOR Serine-Threonine Kinases

Source

Open in PubMed Open full text

Identifiers

PMID: 26523971
DOI: 10.1038/nm.3982
PMCID: PMC4955611

Genes

FOXG1
AKT3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.PMID 26523971Read ↗

A spectrum of AKT3 activating mutations cause focal malformations of cortical development (FMCDs) in cortical organoids.Semantic proximity Read ↗

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.Semantic proximity Read ↗

Focal Cortical Dysplasia: Gene Mutations, Cell Signaling, and Therapeutic Implications.Semantic proximity Read ↗

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.Semantic proximity Read ↗

mTOR signaling in epilepsy: insights from malformations of cortical development.Semantic proximity Read ↗

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.Semantic proximity Read ↗

mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.Semantic proximity Read ↗

Developmental Characterization of Neuronal Migration Anomalies and Axon Proliferation in mTOR pathway-associated Malformations of Cortical DevelopmentSemantic proximity Read ↗

Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations.Semantic proximity Read ↗

Protein Biomarker in Focal Cortical Dysplasia: Molecular Clues to PathogenesisSemantic proximity Read ↗

Genotype‐phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgerySemantic proximity Read ↗

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.