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

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

Epileptic disorders : international epilepsy journal with videotape - 1 Dec 2014

Lee Jin Sook, Lim Byung Chan, Chae Jong-Hee, Hwang Yong Seung, Seong Moon-Woo, Park Sung Sup, Kim Ki Joong

Abstract excerpt

To date, only a few studies have reported that, in tuberous sclerosis, TSC2 mutations are more frequently associated with infantile spasms and cognitive impairment compared to TSC1 mutations. We analyzed the mutational spectrum of patients with tuberous sclerosis in Korea and attempted to explore the associations between genotype and seizure type/outcome. We performed mutational analyses on 70 unrelated patients...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Republic of Korea

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 25498131
DOI: 10.1684/epd.2014.0712

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

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.PMID 25498131Read ↗

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.Semantic proximity Read ↗

Genotypic and Phenotypic Analysis of Korean Patients with Tuberous SclerosisSemantic proximity Read ↗

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort StudySemantic proximity Read ↗

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian CohortSemantic proximity Read ↗

Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex.Semantic proximity Read ↗

Updated Genotype-Phenotype Correlations in TSC.Semantic proximity Read ↗

A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex.Semantic proximity Read ↗

Severity of manifestations in tuberous sclerosis complex in relation to genotype.Semantic proximity Read ↗

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.Semantic proximity Read ↗

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.Semantic proximity Read ↗

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read ↗

Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort.Semantic proximity Read ↗

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