Publications by authors named "Kees P J Braun"

Article Synopsis
  • * A pathogenic variant was found in 31% of the total cases analyzed, with higher rates in specific conditions like focal cortical dysplasia type II (33%) and hemimegalencephaly (62%), particularly involving the mTOR signaling pathway.
  • * The identification of germline and somatic variants, especially in focal epilepsy genes, provides insights for future analyses on genetic factors related to surgical outcomes, which could enhance patient counseling and treatment plans.
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Article Synopsis
  • N-of-1 trials are single-patient studies that focus on individual responses to treatments, particularly useful for patients with rare forms of epilepsy where larger clinical trials are hard to conduct.
  • A systematic review analyzed such trials to evaluate their design, outcomes, and biases, revealing strong individual treatment customization but also some reporting limitations.
  • The findings highlight the potential of N-of-1 trials to provide valuable insights for treating epilepsy, suggesting a need for improved reporting and methodology in future studies.
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Article Synopsis
  • - This study focuses on understanding how disease characteristics and quality of life evolve across different life stages for individuals with Dravet syndrome and related seizure disorders, aiming to help doctors provide better personalized care.
  • - Researchers gathered data through questionnaires, medical records, and interviews, tracking changes in health-related quality of life over a seven-year period, with particular attention to how different factors impact patient well-being.
  • - Findings show that Dravet syndrome patients reported lower quality of life compared to those with non-Dravet conditions, although older Dravet patients exhibited improved quality of life, which was linked to fewer behavioral issues and better physical independence.
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The majority of people with epilepsy achieves long-term seizure-freedom and may consider withdrawal of their anti-seizure medications (ASMs). Withdrawal of ASMs can yield substantial benefits but may be associated with potential risks. This review critically examines the existing literature on ASM withdrawal, emphasizing evidence-based recommendations, where available.

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Article Synopsis
  • This study looked at children who had seizure-like events to find out if they really had epilepsy or something else.
  • In the research, 1213 kids were checked at a special clinic over 13 years, with some getting diagnosed with epilepsy and others not.
  • The results showed that most kids (60.8%) didn't have epilepsy, while 33.5% did, and the clinic could quickly help most of them find out their diagnosis within a few months.
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  • Epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) is a rare condition that affects children's thinking and behavior, and common treatments include corticosteroids and clobazam.
  • Researchers wanted to see which treatment worked better for improving cognitive skills in children with EE-SWAS after 6 months.
  • A study was planned with children aged 2-12 years, but it ended early because they couldn’t find enough kids to participate.
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Objective: Guidelines suggest considering antiseizure medication (ASM) discontinuation in seizure-free patients with epilepsy. Past work has poorly explored how discontinuation effects vary between patients. We evaluated (1) what factors modify the influence of discontinuation on seizure risk; and (2) the range of seizure risk increase due to discontinuation across low- versus high-risk patients.

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Objective: We aimed to evaluate determinants of functional outcome after pediatric hemispherotomy in a large and recent multicenter cohort.

Methods: We retrospectively investigated the functional outcomes of 455 children who underwent hemispherotomy at 5 epilepsy centers in 2000-2016. We identified determinants of unaided walking, voluntary grasping with the hemiplegic hand, and speaking through Bayesian multivariable regression modeling using missing data imputation.

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Objective: Aims of epilepsy surgery in childhood include optimising seizure control and facilitating cognitive development. Predicting which children will improve cognitively is challenging. We investigated the association of the pre-operative structural connectome of the contralateral non-operated hemisphere with improvement in intelligence quotient (IQ) post-operatively.

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Objective: Cognitive impairment is common in children with epilepsy (CWE), but understanding the underlying pathological processes is challenging. We aimed to investigate the association of structural brain network organisation with cognition.

Methods: This was a retrospective cohort study of CWE without structural brain abnormalities, comparing whole brain network characteristics between those with cognitive impairment and those with intact cognition.

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Article Synopsis
  • The study looked into finding better indicators (biomarkers) for epilepsy, showing that just because two groups have different results, it doesn’t mean those results can really tell individuals apart.
  • They created computer simulations to see how group size, differences in data, and effect sizes influence the reliability of these potential biomarkers.
  • The findings revealed that for a biomarker to be effective, it needs a strong effect size (like a score) of at least 1.25, rather than just showing different results in groups.
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Measurements of cerebrovascular reactivity (CVR) are essential for treatment decisions in moyamoya vasculopathy (MMV). Since MMV patients are often young or cognitively impaired, anesthesia is commonly used to limit motion artifacts. Our aim was to investigate the effect of anesthesia on the CVR in pediatric MMV.

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Article Synopsis
  • N-of-1 strategies help doctors find out if a treatment works really well for one specific person, especially when they have a rare disease.
  • There’s a debate on whether these strategies should follow rules for research or rules for medical care since they mix both.
  • The text explains how to set up these strategies safely to choose the best treatments for people with rare diseases.
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Background And Objectives: To describe neurologist practice patterns, challenges, and decision support needs pertaining to withdrawal of antiseizure medications (ASMs) in patients with well-controlled epilepsy.

Methods: We sent an electronic survey to (1) US and (2) European physician members of the American Academy of Neurology and (3) members of EpiCARE, a European Reference Network for rare and complex epilepsies. Analyses included frequencies and percentages, and we showed distributions through histograms and violin plots.

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Objective: We aimed to assess determinants of seizure outcome following pediatric hemispherotomy in a contemporary cohort.

Methods: We retrospectively analyzed the seizure outcomes of 457 children who underwent hemispheric surgery in five European epilepsy centers between 2000 and 2016. We identified variables related to seizure outcome through multivariable regression modeling with missing data imputation and optimal group matching, and we further investigated the role of surgical technique by Bayes factor (BF) analysis.

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Aims: Coarctation of the aorta (CoA) is characterized by a central arteriopathy resulting in increased arterial stiffness. The condition is associated with an increased risk of stroke. We aimed to assess the aortic and cerebral haemodynamics and the presence of vascular brain injury in patients with previous surgical CoA repair.

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Objective: Choosing candidates for antiseizure medication (ASM) withdrawal in well-controlled epilepsy is challenging. We evaluated (a) the correlation between neurologists' seizure risk estimation ("clinician predictions") vs calculated predictions, (b) how viewing calculated predictions influenced recommendations, and (c) barriers to using risk calculation.

Methods: We asked US and European neurologists to predict 2-year seizure risk after ASM withdrawal for hypothetical vignettes.

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Objective: Guidelines suggest considering antiseizure medication (ASM) discontinuation in patients with epilepsy who become seizure-free. Little is known about how discontinuation decisions are being made in practice. We measured the frequency of, and factors associated with, discussions and decisions surrounding ASM discontinuation.

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Background: It remains unclear whether revascularization of moyamoya vasculopathy (MMV) has a positive effect on cognitive function. In this prospective, single-center study, we investigated the effect of revascularization on cognitive function in patients with MMV. We report clinical and radiological outcome parameters and the associations between clinical determinants and change in neurocognitive functioning.

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Background: A third of people with juvenile myoclonic epilepsy (JME) are drug-resistant. Three-quarters have a seizure relapse when attempting to withdraw anti-seizure medication (ASM) after achieving seizure-freedom. It is currently impossible to predict who is likely to become drug-resistant and safely withdraw treatment.

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Article Synopsis
  • The research involved 850 adults from nine international epilepsy centers, focusing on those who were seizure-free besides minor types before withdrawing medication post-surgery.
  • Predictive models were created to determine the risk of seizures returning, with key factors being certain types of seizures after surgery, prior history of specific seizures, the timing of medication withdrawal, and the number of meds taken at surgery, showing a moderate level of accuracy in predicting outcomes.
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  • In this study, researchers wanted to find out if a new way of guiding epilepsy surgery using high-frequency oscillations (HFOs) was just as good as the traditional way using spikes to help stop seizures.
  • They looked at both children and adults and assigned them randomly into two groups, one for HFO-guided and the other for spike-guided surgery, to see who had fewer seizures after one year.
  • After one year, they found that 67% of the people in the HFO group had no seizures, which means this method could be a promising alternative to the old way!
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Objective: To compare scalp-EEG recorded physiological ripples co-occurring with vertex waves to pathological ripples co-occurring with interictal epileptiform discharges (IEDs).

Methods: We marked ripples in sleep EEGs of children. We compared the start of ripples to vertex wave- or IED-start, and duration, frequency, and root mean square (RMS) amplitude of physiological and pathological ripples using multilevel modeling.

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Background: For the two-thirds of patients with epilepsy who achieve seizure remission on antiseizure medications (ASMs), patients and clinicians must weigh the pros and cons of long-term ASM treatment. However, little work has evaluated how often ASM discontinuation occurs in practice. We describe the incidence of and predictors for sustained ASM fill gaps to measure discontinuation in individuals potentially eligible for ASM withdrawal.

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Objective: Presurgical long-term video-EEG monitoring (LT-VEEG) is an important part of the presurgical evaluation in patients with focal epilepsy. Multiple seizures need to be recorded, often in limited time and with the need to taper anti-seizure medication (ASM). The aim of this study was to systematically study the yield – in terms of success – and risks associated with presurgical LT-VEEG, and to identify all previously reported contributing variables.

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