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Article

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

Neuromolecular medicine - 1 Mar 2016

Marchese Maria, Valvo Giulia, Moro Francesca, Sicca Federico, Santorelli Filippo M

Abstract excerpt

The frequent co-occurrence of autism spectrum disorders (ASD) and epilepsy, or paroxysmal EEG abnormalities, defines a condition termed autism-epilepsy phenotype (AEP). This condition results, in some cases , from dysfunctions of glial inwardly rectifying potassium channels (Kir), which are mainly expressed in astrocytes where they mediate neuron-glia communication. Macrocephaly is also often comorbid with...

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Source

Identifiers

PMID: 26537360
DOI: 10.1007/s12017-015-8378-2

Genes

CNTNAP2
DLG1
EFNA3
EPHA4
GJA1
GLUL
GRM8
KCNN3
SNTA1
STXBP1

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.

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