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

Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy.

Epilepsy & behavior : E&B - 1 Jul 2011

Schönberger Anna, Gembe Eva, Grote Alexander, Witt Juri-A, Elger Christian E, Bien Christian G, Urbach Horst, Becker Albert J, Niehusmann Pitt

Abstract excerpt

Germline mutations of TSC1 (harmartin) and TSC2 (tuberin) are known to cause tuberous sclerosis (TSC), an autosomal dominant disorder with severe neurological and systemic manifestations. In addition, increasing data indicate aberrant patterns of allelic variants in patients with lesion-associated epilepsy, but absence of other stigmata of TSC. Animal models of TSC suggested that mutations in the TSC2 gene, even...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsies, Partial
Share to Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neuropsychological Tests

Share to Polymorphism, Single-Stranded Conformational

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Suppressor Proteins

Share to Young Adult

Source

Identifiers

PMID: 21555252
DOI: 10.1016/j.yebeh.2011.03.034

Genes

TSC2
TSC1

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

Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy.PMID 21555252Read ↗

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.Semantic proximity Read ↗

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complexSemantic proximity Read ↗

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.Semantic proximity Read ↗

Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.Semantic proximity Read ↗

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Semantic proximity Read ↗

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.Semantic proximity Read ↗

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.Semantic proximity Read ↗

Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours.Semantic proximity Read ↗

Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells.Semantic proximity Read ↗

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.Semantic proximity Read ↗

A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas.Semantic proximity Read ↗

Tuberous sclerosis-like lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions.Semantic proximity Read ↗

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