Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

A rare concurrence: gelastic seizures in a patient with right temporal nongalenic pial arteriovenous fistula.

Introduction: Gelastic seizures are the type of seizures that are most commonly seen in childhood and should be excluded definitely in the differential diagnosis of hypothalamic hamartomas. This seizure type may be accompanied by refractory seizures, cognitive decline, and early puberty. However, etiology may also include other causes different than hypothalamic hamartomas.