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

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Annals of neurology - 1 Jan 2016

Sim Joe C, Scerri Thomas, Fanjul-Fernández Miriam, Riseley Jessica R, Gillies Greta, Pope Kate, van Roozendaal Hanna, Heng Julian I, Mandelstam Simone A, McGillivray George, MacGregor Duncan, Kannan Lakshminarayanan, Maixner Wirginia, Harvey A Simon, Amor David J, Delatycki Martin B, Crino Peter B, Bahlo Melanie, Lockhart Paul J, Leventer Richard J

Abstract excerpt

We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole-exome sequencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen permease regulator-like 3 (NPRL3). NPRL3 is a component of GAP Activity Towards Rags 1, a negative regulator of the mammalian target of rapamycin complex 1 signaling...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Partial

Share to Epilepsy

Share to GTPase-Activating Proteins

Share to Pedigree

Share to Signal Transduction

Share to TOR Serine-Threonine Kinases

Source

Identifiers

PMID: 26285051
DOI: 10.1002/ana.24502

Genes

NPRL3
DEPDC5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.PMID 26285051Read ↗

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.Semantic proximity Read ↗

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.Semantic proximity Read ↗

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.Semantic proximity Read ↗

mTOR signaling pathway genes in focal epilepsies.Semantic proximity Read ↗

<i>NPRL3</i> : Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure SusceptibilitySemantic proximity Read ↗

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.Semantic proximity Read ↗

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

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.Semantic proximity Read ↗

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.Semantic proximity Read ↗

Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 loss-of-functionSemantic proximity Read ↗

Dissecting the genetic basis of focal cortical dysplasia: a large cohort studySemantic proximity Read ↗

Nocturnal frontal lobe epilepsy caused by a mutation in the <scp>GATOR</scp>1 complex gene <i><scp>NPRL</scp>3</i>Semantic proximity Read ↗

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