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Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents,(More)
PURPOSE The aim of this study is to describe similarities and differences in epidemiological, psychiatric and semiologic variables between patients with psychogenic none epileptic seizures (PNES) and comorbid epilepsy (mixed PNES), and patients with PNES without comorbid epilepsy (pure PNES). RESULTS Forty-three patients with PNES diagnosed by Video-EEG(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)
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)
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)
PURPOSE To determine the predictive value of clinical features and medical history in patients with nonepileptic seizures (NESs). METHODS One hundred sixty-one consecutive ictal video-EEGs were reviewed, and 17 patients with 41 NESs identified. NES diagnosis was defined as paroxysmal behavioral changes suggestive of epileptic seizures recorded during(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)
OBJECTIVE The purpose of this study is to identify specific clinical-electroencephalogram (EEG) patterns at seizure onset in patients with hippocampal sclerosis (HS). METHODS Sixty-six ictal video-EEG recordings corresponding to 26 patients with HS have been reviewed, focusing on the EEG features found during the first 30 ictal s. The EEG activity has(More)
PURPOSE The goal of this study was to assess the cognitive function status in patients with mesial temporal lobe epilepsy and hippocampal sclerosis (TLE+HS) to determine their cognitive function profile and to correlate material-specific memory deficits with HS laterality diagnosed by MRI. METHODS Seventy-one patients were assessed with a(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)