Epilepsy and electroencephalographic abnormalities in patients with diagnosis of idiopathic autism spectrum disorder in Medellín.

The objective of the present study was to make a clinical and electroencephalographic characterization of the electrical findings and types of seizures in patients with idiopathic autism. Pediatric patients of any age, with the diagnosis of idiopathic ASD, contained within the database of the research "Genetic in autism" were included. An electroencephalographic recording with epilepsy protocol was performed in all the patients.

Diagnostic yield of the palmomental reflex in patients with suspected frontal lesion.

Background: The purpose of this study was to determine the diagnostic value of the palmomental reflex in order to identify frontal lesions in neurological outpatients.

Methods: Two hundred twenty-six neurological patients with suspected intracranial lesion with an indication for magnetic resonance imaging (MRI) were included. All patients underwent the same MRI protocol.

Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family.

Febrile seizures and epilepsy are believed to be linked and some forms of epilepsy are associated with a history of febrile seizures (FS). Linkage analysis to seven known loci for FS and/or genetic epilepsy with febrile seizures plus (GEFS plus) was performed in a small Colombian family. Short tandem repeat (STR) markers were genotyped and two-point linkage analysis and haplotype reconstruction were conducted.

[Evidence for association and epistasis between the genetic markers SLC6A4 and HTR2A in autism etiology].

Introduction: Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent.

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

Tourette syndrome (TS) is a neuropsychiatric disorder with a strong genetic component. However, the genetic architecture of TS remains uncertain. Copy number variation (CNV) has been shown to contribute to the genetic make-up of several neurodevelopmental conditions, including schizophrenia and autism.