Publications by authors named "Maria Angeles Perez-Jimenez"
Background: Pathogenic variants in DYNC1H1, which encodes the cytoplasmic dynein 1 heavy chain 1, have been linked to a wide range of neurological syndromes.
Methods: We analyzed clinical data, video-electroencephalography, neuroimaging features, and genetic results in four patients with pathogenic variants in this gene.
Results: A comprehensive description of distinct neuroimaging and neurophysiological hallmarks that can aid in the recognition of these conditions is provided.
Article Synopsis
- Lennox-Gastaut syndrome (LGS) is a severe epilepsy disorder in children that is hard to treat; when medications fail, surgeries like vagus nerve stimulation (VNS) and corpus callosotomy (CC) may be options, with CC often being more effective.
- This study reviewed the outcomes of 127 children with LGS who had undergone CC after unsuccessful VNS, focusing on their seizure types and surgery results.
- The findings showed that about 83% of patients experienced at least a 50% reduction in drop attacks after CC, demonstrating that CC is an important option for improving seizure control with low surgical risks.
Objectives: Although hemispheric surgeries are among the most effective procedures for drug-resistant epilepsy (DRE) in the pediatric population, there is a large variability in seizure outcomes at the group level. A recently developed HOPS score provides individualized estimation of likelihood of seizure freedom to complement clinical judgement. The objective of this study was to develop a freely accessible online calculator that accurately predicts the probability of seizure freedom for any patient at 1-, 2-, and 5-years post-hemispherectomy.
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- The study aimed to compare two surgical techniques—vertical parasagittal and lateral peri-insular/peri-Sylvian hemispherotomy—specifically to see which is better for achieving long-term seizure freedom in patients.* -
- Data from 672 participants indicated that 62.4% achieved seizure freedom over 10 years, with the vertical approach showing higher long-term success rates: 88.8% at 1 year, diminishing to 85.5% at 5 and 10 years, while the lateral approach saw a decline from 89.2% to 57.2% over the same periods.* -
- The analysis revealed that the vertical technique had a significant advantage in maintaining seizure freedom over
Article Synopsis
- A study was conducted to create and validate a model that can predict seizure freedom in children undergoing hemispheric surgery for drug-resistant epilepsy, analyzing data from 1267 surgeries across 32 centers globally.
- The results showed that 66% of patients achieved seizure freedom 3 months post-surgery, with a predictive model developed using factors like age at seizure onset and imaging results, achieving a moderately high predictive accuracy (area under the curve = .72).
- The study introduced the Hemispheric Surgery Outcome Prediction Scale (HOPS), which helps identify children who will benefit from surgery and informs medical decisions, potentially avoiding unnecessary surgeries for those unlikely to gain seizure control.
Background: We aimed to prospectively analyze memory and executive and social cognitive functioning in patients with drug-resistant frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE) with focal lesions and isolate the impact of intellectual ability on specific deficits.
Methods: A neuropsychological evaluation was performed in 23 children with FLE, 22 children with TLE, and 36 healthy pediatric controls (HCs). Patients in the epilepsy groups had a range of lesions, including low-grade epilepsy-associated tumors (LEAT), focal cortical dysplasia (FCD) type II, and mesial temporal sclerosis (MS).
Hypothalamic hamartomas often cause refractory epilepsy, best controlled with surgery. A transcallosal interforniceal approach provides good outcomes although it has resulted in some complications including fornix lesions with transitory and permanent memory losses.1-2 Endoscopic disconnection is less invasive, avoids interhemispheric approach, callosotomy and fornix as well as propagation of epileptic discharges.
View Article and Find Full Text PDFObjective: To profile European trends in pediatric epilepsy surgery (<16 years of age) between 2008 and 2015.
Methods: We collected information on volumes and types of surgery, pathology, and seizure outcome from 20 recognized epilepsy surgery reference centers in 10 European countries.
Results: We analyzed retrospective aggregate data on 1859 operations.
Alterations of the PI3K/Akt/mammalian target of rapamycin complex 1 (mTORC1) signaling pathway are causally involved in a subset of malformations of cortical development (MCDs) ranging from focal cortical dysplasia (FCD) to hemimegalencephaly and megalencephaly. These MCDs represent a frequent cause of refractory pediatric epilepsy. The endocannabinoid system -especially cannabinoid CB receptor- exerts a neurodevelopmental regulatory role at least in part via activation of mTORC1 signaling.
View Article and Find Full Text PDFThere are at least five types of alterations of consciousness that occur during epileptic seizures: auras with illusions or hallucinations, dyscognitive seizures, epileptic delirium, dialeptic seizures, and epileptic coma. Each of these types of alterations of consciousness has a specific semiology and a distinct pathophysiologic mechanism. In this proposal we emphasize the need to clearly define each of these alterations/loss of consciousness and to apply this terminology in semiologic descriptions and classifications of epileptic seizures.
View Article and Find Full Text PDFPurpose: The aim of this study is to describe a series of pediatric hemispherectomies, reviewing pathologic substrate, epilepsy characteristics and seizure outcome as well as developmental profiles, before and after surgery, in different domains.
Methods: Seventeen patients with full pre-surgical work-up, minimum follow-up of 12 months, and at least one post-surgical neuropsychological evaluation were selected. Three had Rasmussen encephalitis (RE), five hemispheric malformations of cortical development (MCD), and nine hemispheric vascular lesions.
Objective: The goal of this study was to investigate clinical findings, ictal semiology, and results of video/electroencephalography (video/EEG), and magnetoencephalography (MEG) in patients with startle epilepsy and normal brain MRI.
Methods: Four patients (mean age 12.5 years) with startle epilepsy were investigated with MRI, video/EEG, and MEG.