Search Results - "García Peñas, Juan José"
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Emergency implementation of telemedicine for epilepsy in Spain: Results of a survey during SARS-CoV-2 pandemic
Published in Epilepsy & behavior (01-10-2020)“…Teleneurology in Spain had not been implemented so far in clinical practice, except in urgent patients with stroke. Telemedicine was hardly used in epilepsy,…”
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Malignant Atrophic Papulosis: A Case Report with Severe Visual and Neurological Impairment
Published in Pediatric dermatology (01-05-2011)“…: Malignant atrophic papulosis, or Degos’ disease, is a severe systemic vasculopathy extremely rare in children. The skin, gastrointestinal tract, and central…”
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Evaluation of a child with a first unprovoked seizure
Published in Medicina (Buenos Aires) (01-01-2018)“…Paroxysmal episodes are one of the most common neurological disorders in children. It is important to distinguish between paroxysmal non-epileptic events,…”
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The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study
Published in Frontiers in neurology (01-09-2022)“…Objective The appropriate management of patients with Dravet Syndrome (DS) is challenging, given the severity of symptoms and the burden of the disease for…”
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Facial Capillary Malformation and Dyke-Davidoff-Masson Syndrome
Published in Pediatric neurology (01-09-2010)“…Described here is the case of a girl with a reticulated capillary malformation on the right side of her face, along with Dyke-Davidoff-Masson syndrome, as…”
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Use of carglumic acid in valproate‐induced hyperammonemia: 25 pediatric cases
Published in JIMD reports (01-09-2020)“…Hyperammonemic encephalopathy is a rare but potentially dangerous complication of the antiepileptic drug (AED) sodium valproate (VPA). We report a…”
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Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita
Published in Pediatric dermatology (01-07-2015)“…We report on a child with multiple lesions of membranous aplasia cutis congenita of the scalp since birth who developed an extensive intracranial arteriovenous…”
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Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients
Published in Journal of autism and developmental disorders (25-05-2024)“…Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in MECP2 gene. This study aims to describe the prevalence of orthopedic…”
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Efficacy of Brivaracetam in children with epilepsy
Published in Epilepsy research (01-11-2021)“…•As far as we know, our case report is the largest such study of children with refractory epilepsy in which the effects of BRV are analysed.•Despite the…”
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Outcomes from a Spanish Expanded Access Program on cannabidiol treatment in pediatric and adult patients with epilepsy
Published in Epilepsy & behavior (01-12-2022)“…•Cannabidiol is a licensed antiseizure medication for specific rare epilepsies.•Outcomes of an expanded access program were evaluated in one hundred and two…”
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Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years
Published in Anales de Pediatría (01-06-2022)“…Ketogenic dietary therapies (KDT) produce anticonvulsant and neuroprotective effects, reduce seizures and improve the cognitive state in patients with…”
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School failure and pediatric epilepsy
Published in Revista de neurologiá (25-02-2015)“…School failure, learning and behavioral problems are more common in children with epilepsy than the general population. The aim of this study is to examine the…”
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Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome
Published in European journal of paediatric neurology (01-07-2020)“…Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with typical clinical features including seizures, chronic hemiplegia, hemianopsia and intellectual…”
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Epilepsia, cognición y dieta cetogénica
Published in Revista de neurologiá (2018)Get full text
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Induced atypical absence seizures during treatment with perampanel
Published in Anales de Pediatría (01-11-2019)Get full text
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Epilepsy and cognition: the role of antiepileptic drugs
Published in Revista de neurologiá (24-02-2014)“…Multiple factors underlie the cognitive changes associated with epilepsy, including the effect of antiepileptic drug (AED) therapy itself. The use of AEDs in…”
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Autism, epilepsy and tuberous sclerosis complex: a functional model linked to mTOR pathway
Published in Revista de neurologiá (22-02-2013)“…Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma…”
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Hemicerebellitis: Report of three paediatric cases and review of the literature
Published in European journal of paediatric neurology (01-05-2014)“…Abstract Acute inflammation of a single cerebellar hemisphere (hemicerebellitis) is a rare disorder of unknown origin. The clinical presentation is mainly…”
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Trastornos del espectro autista y epilepsia: el papel de la dieta cetogénica
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Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process
Published in Revista de neurologiá (16-07-2013)“…Wolf-Hirschhorn syndrome (WHS) is a chromosome pathology produced by a deletion in the distal region of the short arm of chromosome 4. It is characterised by…”
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