Marcelo Andrés Kauffman

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In order to investigate the role of ApoE epsilon4 as a modifier of the age at onset of temporal lobe epilepsy (TLE), we performed a molecular epidemiology study in 78 patients with mesial temporal lobe epilepsy and hippocampal sclerosis. Genotyping was done by a PCR-RFLP assay. In order to better estimate the role of this variant as a modifier of the age at(More)
INTRODUCTION Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD. METHODS We identified a family segregating ASD in(More)
We performed an association study in a population of patients with Mesial Temporal Lobe Epilepsy (TLE) with Hippocampal Sclerosis (MTEHS) together with a systematic revision of the literature to investigate the role of transcriptionally less active polymorphic alleles of Prodynorphin (PDYN) gene in this pathology. We included 102 patients with a diagnosis(More)
The G1465A polymorphism in the gene of the GABA type B receptor subunit 1 (GABABR1) has been linked to the risk for temporal lobe epilepsy (TLE). However, six replication studies did not show significant association between the G1465A GABABR1 gene variant and TLE. The authors examined this association in a sample of 102 patients with mesial TLE with(More)
The issue of psychotic disorders in epilepsy has given rise to great controversy among professionals; however, there are not many studies in this area and the physiopathological mechanisms remain unknown. The aim of this study was to describe the spectrum of psychotic disorders in an Argentine population with refractory temporal lobe epilepsy (RTLE) and to(More)
Previous studies have examined the association of a single nucleotide polymorphism at the promoter region of interleukin 1B (IL-1 beta-511T) with temporal lobe epilepsy and febrile seizures susceptibility, but those studies have been inconclusive. Published studies up to March 2007 of temporal lobe epilepsy, febrile seizures and the IL-1 beta-511T single(More)
OBJECTIVE To describe clinical features of epilepsy secondary to Malformation of Cortical Development (MCD) in a series of adult patients. MATERIALS AND METHODS We searched our database for all cases with confirmed epilepsy and MCD and included in the study only those with complete data. Mean age, sex, age at seizure onset (ASO), seizure types, abnormal(More)
We performed a molecular epidemiology study in a population of 105 mesial temporal lobe epilepsy with hippocampal sclerosis (MTE-HS) patients in order to investigate the role of a polymorphism in the serotonin transporter gene (SLC6A4) in the prediction of antiepileptic drug (AED) treatment response. Homozygous carriers of the 12-repeat allele had an almost(More)
AIM We describe the clinical features, treatment and prognosis in a series of patients with epilepsy secondary to hypothalamic hamarthomas (HH) in a developing country. MATERIALS AND METHODS Eight patients with epilepsy and HH were included between 1997 and 2006. We analyzed gender, age, age at seizure onset (ASO), seizure types (ST), mental retardation(More)