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

Phenotypic clustering in tuberous sclerosis complex reveals four distinct disease trajectories

21 Feb 2025

Abstract excerpt

Tuberous sclerosis complex (TSC) is a phenotypically heterogeneous autosomal dominant epilepsy, neuropsychiatric and tumoural predisposition disease, occurring because of germline variants in the TSC1 or TSC2 genes. Despite an improving understanding of the varied phenotypes with which TSC can present, there remains an incomplete understanding of the disease trajectory and the genotype-phenotype relationship in...

Read the complete abstract on PubMed

Topics

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

Share to Polyomavirus and related diseases
Share to Tuberous Sclerosis Complex Research

Source

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 39982781
DOI: 10.1093/brain/awaf072

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic clustering in tuberous sclerosis complex reveals four distinct disease trajectoriesPMID 39982781Read ↗

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.Semantic proximity Read ↗

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.Semantic proximity Read ↗

Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.Semantic proximity Read ↗

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.Semantic proximity Read ↗

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

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.Semantic proximity Read ↗

Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex.Semantic proximity Read ↗

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

Developing a Phenotype Risk Score for Tic Disorders in a Large, Clinical BiobankSemantic proximity Read ↗

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patientsSemantic proximity Read ↗

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practiceSemantic proximity Read ↗

Tuberous sclerosis complex.Semantic proximity Read ↗

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