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

[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Dec 2024

Sun Ying-Ying, Liu Hui, Liu Miao, Mei Shi-Yue, Ma Yan-Li

Abstract excerpt

The patient is a 10-month and 21-day-old girl who began to show developmental delays at 3 months of age, with severe language developmental disorders, stereotyped movements, and easily provoked laughter. Physical examination revealed fair skin and a flattened occiput. At 10 months of age, a video electroencephalogram suggested atypical absence seizures, with migrating slow-wave activity observed during the...

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 Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Intellectual Disability

Share to Mutation

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 39725401
DOI: 10.7499/j.issn.1008-8830.2408067
PMCID: PMC11684838

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report].PMID 39725401Read ↗

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures.Semantic proximity Read ↗

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.Semantic proximity Read ↗

Malignant Migrating Partial Seizures of Infancy (MMPSI): Expansion of Clinical Phenotypic and Genotypic SpectraSemantic proximity Read ↗

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.Semantic proximity Read ↗

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

SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.Semantic proximity Read ↗

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.Semantic proximity Read ↗

[Clinical and genetic analysis of hyperekplexia in a Chinese child and literature review].Semantic proximity Read ↗

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.Semantic proximity Read ↗

[Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature].Semantic proximity Read ↗

Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.Semantic proximity Read ↗

[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report].Semantic proximity Read ↗

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