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

Recurrent Encephalopathy as a Form of Presentation of Transport Protein Particle Complex 11-Related Disease: A Family Matter.

Pediatric neurology - 1 Mar 2026

Noites Inês, Borges Catarina, Ferraz Sandra Catarina, Falcão-Reis Cláudia, Garrido Cristina, Carrilho Inês

Abstract excerpt

BACKGROUND: Transport protein particle complex 11 (TRAPPC11)-related disease, with autosomal recessive inheritance, exhibits a multisystemic involvement that goes widely beyond muscle weakness. Poor growth, psychomotor development delay, intellectual disability, microcephaly, ophthalmic involvement, and movement disorders are some of the typical features. Elevated serum creatine kinase levels are present in all...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Intellectual Disability

Share to Mutation

Share to Pedigree

Share to Siblings

Share to Vesicular Transport Proteins

Source

Identifiers

PMID: 41558213
DOI: 10.1016/j.pediatrneurol.2025.12.021

Genes

TRAPPC11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent Encephalopathy as a Form of Presentation of Transport Protein Particle Complex 11-Related Disease: A Family Matter.PMID 41558213Read ↗

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.Semantic proximity Read ↗

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.Semantic proximity Read ↗

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.Semantic proximity Read ↗

Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.Semantic proximity Read ↗

Expanding the Phenotypic Variability of PMPCA-Related Ataxia.Semantic proximity Read ↗

Clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration.Semantic proximity Read ↗

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.Semantic proximity Read ↗

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.Semantic proximity Read ↗

Clinical and molecular spectrum associated with Polymerase-γ related disorders.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.Semantic proximity Read ↗

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.Semantic proximity Read ↗

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.Semantic proximity Read ↗

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