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

[Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2024

Xie Zaoye, Li Chengyan, Chen Chaohong, Huang Binglong, Liu Ling, Ao Dang

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy. METHODS: A child who was admitted to the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to Epilepsy

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

Share to Exome Sequencing

Share to Genetic Testing

Share to Infant

Share to Intellectual Disability

Share to Mutation, Missense

Share to Phenotype

Source

Identifiers

PMID: 38946364
DOI: 10.3760/cma.j.cn511374-20230515-00288

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

[Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene].PMID 38946364Read ↗

[Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene].Semantic proximity Read ↗

[Analysis of genetic variants in a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures].Semantic proximity Read ↗

[Genetic analysis of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 due to variant of PIGN gene].Semantic proximity Read ↗

[Clinical and genetic analysis of two children with TANC2 gene variants and a literature review].Semantic proximity Read ↗

[Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene].Semantic proximity Read ↗

[Analysis of clinical features and PAK1 gene variant in a child with epilepsy and global developmental delay].Semantic proximity Read ↗

[Clinical features of KCNB1 gene variation related developmental and epileptic encephalopathy].Semantic proximity Read ↗

[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].Semantic proximity Read ↗

[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].Semantic proximity Read ↗

CLTC as a clinically novel gene associated with multiple malformations and developmental delaySemantic proximity Read ↗

[Analysis of a child with neurodevelopmental disorders due to variant of HNRNPU gene and a literature review].Semantic proximity Read ↗

Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.Semantic proximity Read ↗

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