A5028848907- Epilepsy research and treatment
- Long-Term Effects of COVID-19
- COVID-19 Clinical Research Studies
- Genetics and Neurodevelopmental Disorders
- Pharmacological Effects and Toxicity Studies
- Parkinson's Disease Mechanisms and Treatments
- Neurobiology of Language and Bilingualism
- Neuroscience and Neuropharmacology Research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- EEG and Brain-Computer Interfaces
- Respiratory Support and Mechanisms
- Metabolism and Genetic Disorders
- Ion Transport and Channel Regulation
- Amino Acid Enzymes and Metabolism
- Olfactory and Sensory Function Studies
- Stroke Rehabilitation and Recovery
- Glycogen Storage Diseases and Myoclonus
- Advanced Chemical Sensor Technologies
- Botulinum Toxin and Related Neurological Disorders
- COVID-19 and Mental Health
- Erythrocyte Function and Pathophysiology
- Adrenal Hormones and Disorders
- Neurological disorders and treatments
- Full-Duplex Wireless Communications
Hospital Ruber Internacional
2021-2025
Hospital Universitario Ramón y Cajal
2020-2022
Hospices Civils de Lyon
2022
Hôpital Femme Mère Enfant
2022
Universidad de Alcalá
2020
Instituto Ramón y Cajal de Investigación Sanitaria
2020
Instituto Cajal
2020
Universidad de Málaga
2015
Specific respiratory tract infections, including COVID-19, may cause smell and/or taste disorders (STDs) with increased frequency. The aim was to determine whether new-onset STDs are more frequent amongst COVID-19 patients than influenza patients.This a case-control study hospitalized of two tertiary care centres. Consecutive positive for polymerase chain reaction (cases) and (historical control sample) were assessed during specific periods, employing self-reported STD...
Knowledge of the natural history CDKL5 deficiency disorder (CDD) is limited to results cross-sectional analysis largely pediatric cohorts. Assessment outcomes in adulthood critical for clinical decision-making and future precision medicine approaches but challenging because diagnostic gap duration follow-up that would be required prospective studies. We aimed delineate retrospectively from adulthood. analyzed data about an international cohort 67 adults with CDD. demographic, phenotypic,...
The NALCN channelosome regulates the resting membrane potential through sodium leak currents, influencing cellular excitability. Genetic variants in and UNC80, a subunit of channelosome, cause ultra-rare severe neurodevelopmental disorders. Autosomal dominant congenital contractures limbs face, hypotonia, developmental delay (CLIFAHDD) syndrome is associated with gain-of-function (GOF) NALCN. Infantile hypotonia psychomotor retardation characteristic facies (IHPRF) 1 biallelic IHPRF 2 both...
Abstract Objective To assess efficacy and tolerability of stiripentol (STP) as adjunctive treatment in Dravet syndrome non‐Dravet refractory developmental epileptic encephalopathies (DREEs). Methods Retrospective observational study all children adults with DREE prescribed STP at Hospital Ruber Internacional from January 2000 to February 2023. Outcomes were retention rate, responder rate (proportion patients ≥50% reduction total seizure frequency relative baseline), freedom for status...
SCN8A-developmental and epileptic encephalopathy is caused by pathogenic variants in the SCN8A gene encoding Nav 1.6 sodium channel, characterized intractable multivariate seizures developmental regression. Fenfluramine a repurposed drug with proven antiseizure efficacy Dravet syndrome Lennox-Gastaut syndrome. The effect of fenfluramine treatment was assessed retrospective series three patients epilepsy severe neurodevelopmental comorbidity (n = 2 females; age 2.8-13 years; 8-16 prior failed...
Immunosuppression (IS) and autoimmune disease (AD) are prevalent in patients with severe coronavirus 2019 (COVID-19), but their impact on its clinical course is unknown. We investigated relationships between IS, AD, outcomes hospitalized COVID-19. Data consecutive admissions for COVID-19 were extracted retrospectively from medical records. Patients assigned to one of four cohorts, according whether or not they had an AD (AD NAD) immunosuppressed (IS NIS). The primary endpoint was development...
Background: Urinary symptoms are common, disabling and generally unresponsive to treatment in Parkinson´s disease (PD). Safinamide is approved as an add-on therapy levodopa improve fluctuations. Methods: Retrospective analysis of electronic records nondemented PD patients seen consecutively a Movement Disorders Unit (November 2018–February 2019). All were assessed with Scale for Outcomes Parkinson’s Autonomic Symptoms-Urinary subscale (SCOPA-AUT-U) by the attending neurologist, month...
Lesion-symptom mapping studies reveal that selective damage to one or more components of the speech production network can be associated with foreign accent syndrome, changes in regional (e.g., from Parisian Alsatian accent), stronger accent, re-emergence a previously learned and dormant accent. Here, we report loss after rapidly regressive Broca's aphasia three Argentinean patients who had suffered unilateral bilateral focal lesions network. All were monolingual speakers different native...
The role of immunosuppression among coronavirus disease 2019 (COVID-19) patients has not been elucidated and management may be challenging. This observational study included confirmed COVID-19 patients. primary endpoint was the development moderate-severe acute respiratory distress syndrome (ARDS). Time to ARDS, need for mechanical or noninvasive ventilation (MV/NIV), death, a composite death MV/NIV were secondary endpoints. Of 138 included, 27 (19.6%) immunosuppressed (IS) 95 (68.8%) male,...
Most patients with Dravet syndrome (DS) have unremarkable neuroimaging studies. However, a small number of exhibit focal abnormalities that may modify the epilepsy phenotype. We report case series DS carrying SCN1A variants concurrent additional brain lesions, aiming to provide details regarding their clinical course, electrographic findings, and imaging features.
Background Perseverations in speech production tasks represent a pervasive symptom of chronic aphasia. Semantic perseverations (SPs) are defined as repetitive and unconscious specific linguistic forms previously produced, heard, or seen which share semantic relatedness with the target word. Neurochemically, SPs have been attributed to weakened activation word due depletion neurotransmitter systems (acetylcholine dopamine) occurring context competitors.Aims The present pilot study seeks...
The redefinition of classical electroclinical syndromes and the emergence neurogenetics has led to a revolution in field developmental epileptic encephalopathies (DEEs). In this context, advances genetic techniques are leading final diagnosis large proportion patients with DEE. However, up 50% DEE remain undiagnosed. For uncertain etiology, there is pressing need for implementation new targeted treatments precision medicine. some undiagnosed patients, reanalysis further in-depth or reverse...
The diagnostic criteria for progressive supranuclear palsy (PSP) incorporate two speech-language disturbances (SLDs), non-fluent/agrammatic primary aphasia and apraxia of speech, but overlook the inclusion other SLDs, including dynamic (DA). Thus, there is a need to reappraise broad spectrum SLDs in PSP include presenting phenotypes. Here we report findings from study elderly patients with DA irrepressible echolalia. Both had markedly impoverished verbal production, their performance tasks...
<title>Abstract</title> Background Eukaryotic initiation factor 5A (eIF5A) and hypusination-related disorders (eIF5A-HRD) are recently described diseases caused by pathogenic heterozygous variants in the translation EIF5A or biallelic two enzymes involved post-translational synthesis of hypusine eIF5A precursor, deoxyhypusine synthase (DHPS) hydroxylase (DOHH), necessary for its activation. We review current knowledge regarding eIF5A-HRD, report case sixth oldest known patient with...
Abstract BACKGROUND : Coronavirus disease 2019 (COVID-19) is an emerging infectious that has spread rapidly worldwide. The role of immunosuppression among COVID-19 patients not been elucidated and management may be challenging. OBJECTIVE To assess differences in severe outcomes hospitalized with according to immune system state. DESIGN Retrospective single-center observational study confirmed admitted Hospital Universitario Ramón y Cajal from March 18, 2020 April 04, 2020. final date...