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

Effects of Mutations in TSC Genes on Neurodevelopment and Synaptic Transmission.

International journal of molecular sciences - 6 Jul 2021

Bassetti Davide, Luhmann Heiko J, Kirischuk Sergei

Abstract excerpt

Mutations in TSC1 or TSC2 genes are linked to alterations in neuronal function which ultimately lead to the development of a complex neurological phenotype. Here we review current research on the effects that reduction in TSC1 or TSC2 can produce on the developing neural network. A crucial feature of the disease pathophysiology appears to be an early deviation from typical neurodevelopment, in the form of...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Neurons
Share to Synaptic Transmission

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 34298906
DOI: 10.3390/ijms22147273
PMCID: PMC8305053

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Effects of Mutations in TSC Genes on Neurodevelopment and Synaptic Transmission.PMID 34298906Read ↗

Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment.Semantic proximity Read ↗

Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes.Semantic proximity Read ↗

Tuberous sclerosis complex and epilepsy: recent developments and future challenges.Semantic proximity Read ↗

mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticusSemantic proximity Read ↗

Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complexSemantic proximity Read ↗

A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited SurvivalSemantic proximity Read ↗

Complex Neurological Phenotype in Mutant Mice Lacking Tsc2 in Excitatory Neurons of the Developing Forebrain(123).Semantic proximity Read ↗

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficitsSemantic proximity Read ↗

The epilepsy-autism spectrum disorder phenotype in the era of molecular genetics and precision therapy.Semantic proximity Read ↗

Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complexSemantic proximity Read ↗

mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticusSemantic proximity Read ↗

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectivesSemantic proximity Read ↗

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