Publications by authors named "Guillermina Garcia Martin"

A central role for neuroinflammation in epileptogenesis has recently been suggested by several investigations. This systematic review explores the role of inflammatory mediators in epileptogenesis, its association with seizure severity, and its correlation with drug-resistant epilepsy (DRE). The study analysed articles published in JCR journals from 2019 to 2024.

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Background And Objective: Most second and third generation antiseizure medications (ASMs) are associated with cognitive adverse events, which are a major concern for patients. However, the profile of cognitive adverse events differs between ASMs. This study investigated the effects of cenobamate on cognition in patients with drug-resistant epilepsy (DRE) within the Spanish Expanded Access Program (EAP).

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Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD).

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Background And Objectives: Autoimmune-associated epilepsy (AAE) with antiglutamic acid decarboxylase 65 (GAD65) antibodies is considered a T-cell-mediated encephalitis that evolves to drug-resistant epilepsy. We do not have an effective therapeutic strategy for these patients. Because the GAD enzyme is primarily responsible for the conversion of glutamate to GABA, the mechanism of epileptogenesis in this condition predicts decreased levels of GABA content in synaptic vesicles.

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Immunologic and neuroinflammatory pathways have been found to play a major role in the pathogenesis of many neurological disorders such as epilepsy, proposing the use of novel therapeutic strategies. In the era of personalized medicine and in the face of the exhaustion of anti-seizure therapeutic resources, it is worth looking at the current or future possibilities that neuroimmunomodulator or anti-inflammatory therapy can offer us in the management of patients with epilepsy. For this reason, we performed a narrative review on the recent advances on the basic epileptogenic mechanisms related to the activation of immunity or neuroinflammation with special attention to current and future opportunities for novel treatments in epilepsy.

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In order to determine the prevalence of neural autoantibodies in adult patients with drug-resistant temporal lobe epilepsy (DRTLE) of unknown etiology, we compared the characteristics of patients with and without autoantibodies and applied antibody predictive scores to the patients. Patients aged ≥18 years with DRTLE of unknown etiology and ≥12 months of evolution were prospectively recruited. Neural autoantibodies in serum and CSF were systematically determined in all patients.

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Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances.

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Background: The prevalence of neural autoantibodies in epilepsy of unknown etiology varies among studies. We aimed to conduct a systematic review and meta-analysis to determine the pooled global prevalence and the prevalence for each antibody.

Methods: A systematic search was conducted for studies that included prospectively patients ≥16 years old with epilepsy of unknown etiology and systematically determined neural autoantibodies.

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Introduction: Forced normalization is a clinical situation of singular relationship betweenepilepsy and psychosis, in which a patient shows behavioural and psychiatric symptoms coinciding with a reduction or termination of seizures and a total or partial normalization ofelectroencephalogram. Behavioural symptoms (frequently psychosis) or mood disturbances may appear. More information about this phenomenon, risk factors and prognostic variables is needed.

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Introduction: Neurosarcoidosis is a rare complication of sarcoidosis. There are small series on the condition and very few from Spain. We conducted a retrospective study of neurosarcoidosis in Virgen de la Victoria Hospital over the last 10 years.

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Objective: Perampanel (PER) has been shown to be effective as an adjunctive therapy for controlling refractory focal-onset seizures (FOS). However, the information as early add-on for the treatment of FOS in the clinical practice is still scarce and must be further assessed.

Methods: An observational prospective study was conducted to evaluate the effectiveness of early add-on PER, assessed as 50% responders (seizure frequency reduced by at least 50% during the last 3 months as compared with baseline) rate at 6 and 12 months, in patients with FOS in the routine clinical practice of Spain.

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Purpose: Studies concerning mortality in epilepsy have been performed primarily in Northern-Central Europe and US. The aim of this study was to provide information about mortality in people with epilepsy in Southern European countries.

Method: We studied a Spanish prevalence and incidence cohort of 2309 patients aged ≥14 years with epilepsy who were treated in an outpatient epilepsy clinic between 2000 and 2013.

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Introduction: Tuberous sclerosis is a genetic disease, the main manifestations of which are the formation of neuroectodermal tumours, which are very often associated to secondary epilepsy.

Aim: To describe the epileptic profile, control, frequency of seizures and effectiveness of treatment in adult patients with tuberous sclerosis.

Patients And Methods: The study was descriptive and included adult patients (over 14 years of age) with a confirmed diagnosis of tuberous sclerosis.

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Introduction: Epilepsy is a chronic illness that requires a long-term periodic follow-up of the patient and this means that as time goes by the number of patients attended increases, with the ensuing added cost for the healthcare system.

Aim: To determine the factors involved in the time until an epileptic patient's next visit.

Patients And Methods: Our sample consisted of a selection of patients who visited the epilepsy clinic at our hospital consecutively during one year.

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Purpose: Epilepsy is a common neurological disorder found in all societies. There are extensive epidemiologic studies of different European areas. However, not much information about the South-West of Europe exists.

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Introduction: Jeavons syndrome (JS) or eyelid myoclonia (EM) with or without absences is an epileptic syndrome characterised by EM on closing the eyes, in bright environments, which coincides on the electroencephalogram with brief generalised polyspike and polyspike-wave discharges at 3-6 Hz. Photoparoxysmal response is associated in photostimulation. The ILAE recognises EM as a special type of myoclonic seizures, yet it still does not include JS as a separate condition in its classification of epileptic syndromes.

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