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

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

BMC medical genetics - 27 Feb 2014

Marchese Maria, Conti Valerio, Valvo Giulia, Moro Francesca, Muratori Filippo, Tancredi Raffaella, Santorelli Filippo M, Guerrini Renzo, Sicca Federico

Abstract excerpt

BACKGROUND: With a complex and extremely high clinical and genetic heterogeneity, autism spectrum disorders (ASD) are better dissected if one takes into account specific endophenotypes. Comorbidity of ASD with epilepsy (or paroxysmal EEG) has long been described and seems to have strong genetic background. Macrocephaly also represents a well-known endophenotype in subgroups of ASD individuals, which suggests...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Autistic Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Cycle Proteins

Share to Epilepsy

Share to Frameshift Mutation

Share to Megalencephaly

Share to Proteins

Share to PTEN Phosphohydrolase

Source

Open in PubMed Open full text

Identifiers

PMID: 24580998
DOI: 10.1186/1471-2350-15-26
PMCID: PMC3941568

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.PMID 24580998Read ↗

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.Semantic proximity Read ↗

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.Semantic proximity Read ↗

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.Semantic proximity Read ↗

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.Semantic proximity Read ↗

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.Semantic proximity Read ↗

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.Semantic proximity Read ↗

NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?Semantic proximity Read ↗

PTEN somatic mutations contribute to spectrum of cerebral overgrowth.Semantic proximity Read ↗

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.Semantic proximity Read ↗

Head circumference is an independent clinical finding associated with autismSemantic proximity Read ↗

Autism-associated <i>ASPM</i> variant causes macrocephaly and social-cognitive deficits in miceSemantic proximity Read ↗

Pten Mutations Alter Brain Growth Trajectory and Allocation of Cell Types through Elevated -Catenin SignalingSemantic proximity Read ↗

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