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Neuropediatrics®️

@NeuroInfanti

Spreading and supporting Child & Adolescent Neurology. Madrid. España 🇪🇸

 HLP. Madrid
Joined June 2014
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Which is more deleterious to cognitive performance? Interictal epileptiform discharges vs. anti‐seizure medication onlinelibrary.wiley.com/doi/…
Which is more deleterious to cognitive performance? Interictal epileptiform discharges vs anti‐se...

Which is more deleterious to cognitive performance? Interictal epileptiform discharges vs anti‐se...

Children with epilepsy commonly have comorbid neurocognitive impairments that severely affect their psychosocial well-being, education, and future career prospects. Although the provenance of these...

onlinelibrary.wiley.com
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Genes4Epilepsy: an epilepsy gene resource onlinelibrary.wiley.com/doi/…
Genes4Epilepsy: An epilepsy gene resource

Genes4Epilepsy: An epilepsy gene resource

Objective “How many epilepsy genes are there?” is a frequently asked question. We sought to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and contrast epileps...

onlinelibrary.wiley.com
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Magnetic Resonance‐guided Laser Interstitial Thermal Therapy for Drug‐Resistant Epilepsy: A Systematic Review and Individual Participant Data Meta‐Analysis onlinelibrary.wiley.com/doi/…
Magnetic resonance‐guided laser interstitial thermal therapy for drug‐resistant epilepsy: A...

Magnetic resonance‐guided laser interstitial thermal therapy for drug‐resistant epilepsy: A...

Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) has emerged as a popular minimally invasive alternative to open resective surgery for drug-resistant epilepsy (DRE). We sought...

onlinelibrary.wiley.com
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Sudden unexpected death in epilepsy in children onlinelibrary.wiley.com/doi/…
Sudden unexpected death in epilepsy in children

Sudden unexpected death in epilepsy in children

This invited review is commented on by Mastrangelo et al. on pages 1134–1135 of this issue.

onlinelibrary.wiley.com
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Progress in pathogenesis and therapy of Rasmussen's encephalitis onlinelibrary.wiley.com/doi/…
Progress in pathogenesis and therapy of Rasmussen's encephalitis

Progress in pathogenesis and therapy of Rasmussen's encephalitis

Rasmussen's encephalitis (RE) is a rare condition of unknown etiology that causes a severe chronically neurological disorder with mostly affecting children. The main clinical feature of RE includes...

onlinelibrary.wiley.com
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Advances in sudden unexpected death in epilepsy onlinelibrary.wiley.com/doi/…

Advances in sudden unexpected death in epilepsy

Sudden unexpected death in epilepsy (SUDEP) is the major cause of premature death in epilepsy patients, particularly those with refractory epilepsy. Sudden unexpected death in epilepsy is thought to...

onlinelibrary.wiley.com
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Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway epilepsybehavior.com/article…
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Neurocognitive Effects of Antiseizure Medications in Children and Adolescents with Epilepsy link.springer.com/article/10…
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Drug Treatment of Epilepsy Neuropsychiatric Comorbidities in Children link.springer.com/article/10…
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Update on Drug Management of Refractory Epilepsy in Tuberous Sclerosis Complex link.springer.com/article/10…
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Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy academic.oup.com/brain/advan…

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder associated with early-onset and difficult-to-treat seizures. Aronica et al. review the c

academic.oup.com
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Así es el peligroso ictus infantil que acecha a los niños larazon.es/salud/asi-peligro…
Así es el peligroso ictus infantil que acecha a los niños

Así es el peligroso ictus infantil que acecha a los niños

Así es el peligroso ictus infantil que acecha a los niños

larazon.es
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STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy movementdisorders.onlinelibr…
STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

Click on the article title to read more.

movementdisorders.onlinelibrary.wiley.com
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Short-Term Outcome of Rehabilitation Program with Hybrid Assistive Limb after Tendon Lengthening in Patients with Cerebral Palsy mdpi.com/2036-7503/14/4/59
Short-Term Outcome of Rehabilitation Program with Hybrid Assistive Limb after Tendon Lengthening in...

Short-Term Outcome of Rehabilitation Program with Hybrid Assistive Limb after Tendon Lengthening in...

In this study, we aimed to evaluate the short-term outcomes of a rehabilitation program with the Hybrid Assistive Limb® after soft tissue lengthening in young patients with cerebral palsy. We...

mdpi.com
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Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review mdpi.com/2036-7503/14/4/46
Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature...

Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature...

Syntaxin-binding protein1 (STXBP1) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and...

mdpi.com
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Assessing the landscape of STXBP1-related disorders in 534 individuals academic.oup.com/brain/artic…
Assessing the landscape of STXBP1-related disorders in 534 individuals

Assessing the landscape of STXBP1-related disorders in 534 individuals

Xian et al. report findings from the largest clinical analysis of STXBP1-related disorders to date. Mapping the clinical data of 534 individuals to a compu

academic.oup.com
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A disease concept model for STXBP1‐related disorders onlinelibrary.wiley.com/doi/…
A disease concept model for STXBP1‐related disorders

A disease concept model for STXBP1‐related disorders

Objective STXBP1-related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are...

onlinelibrary.wiley.com
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Family Quality of Life in Children with Severe or Profound Disability: Home Versus Residential Care journals.lww.com/jrnldbp/ful…
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An Introduction to Artificial Intelligence in Developmental and Behavioral Pediatrics journals.lww.com/jrnldbp/ful…
An Introduction to Artificial Intelligence in... : Journal of Developmental & Behavioral Pediatrics

An Introduction to Artificial Intelligence in... : Journal of Developmental & Behavioral Pediatrics

ABSTRACT:Technological breakthroughs, together with the rapid growth of medical information and improved data connectivity, are creating dramatic...

ovid.com
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Visits of concern in child neurology telemedicine onlinelibrary.wiley.com/doi/…

Visits of concern in child neurology telemedicine

It is possible to successfully flag patients who need in-person assessment. Providers can manage issues arising during telemedicine in 95% of visits. Visits flagged as concerning were likely unr...

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