Publications by authors named "M L Ruiz-Falco"

Introduction: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship.

Objective: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy.

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Introduction: Anosmia and hypogeusia are frequent symptoms in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in adults, but their incidence in children is unknown.

Objective: Describe the incidence and associated characteristics of olfactory and gustatory dysfunction in children with SARS-CoV-2 infection.

Material And Methods: Descriptive study carried out by telephone survey of patients aged between five and 18 years with SARS-CoV-2 infection confirmed between March and December, 2020.

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Background And Objectives: To determine the efficacy, tolerance, and safety of BRV in children with epilepsy.

Methods: A retrospective study of patients with epilepsy who received treatment with BRV before age 16 years and underwent a minimum follow-up of 3 months.

Method And Results: Sixty-six patients were included in the study.

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Introduction: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship.

Objective: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy.

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In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic.

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