Publications by authors named "Eli Heyman"

Article Synopsis
  • Drug-resistant epilepsy (DRE) significantly impacts the lives of children and young adults, prompting a study on the effectiveness and safety of purified CBD for this population.
  • The study analyzed data from 139 patients, revealing that a significant majority experienced reduced seizure frequency after treatment, with 41.1% showing over a 50% reduction, along with improvements in alertness and speech.
  • While purified CBD proved to be well-tolerated and effective, common side effects included irritability and drowsiness, with previous treatments influencing the likelihood of seizure reduction.
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This study aimed to investigate the efficacy and tolerability of Lacosamide (LCM) in a pediatric population with epilepsy using LCM serum concentration and its correlation to the age of the participants and the dosage of the drug. Demographic and clinical data were collected from the medical records of children with epilepsy treated with LCM at Shamir Medical Center between February 2019 to September 2021, in whom medication blood levels were measured. Trough serum LCM concentration was measured in the biochemical laboratory using High-Performance Liquid Chromatography (HPLC) and correlated with the administered weight-based medication dosing and clinical report.

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Background: The notion that pediatric type 1 diabetes impacts brain function and structure early in life is of great concern. Neurological manifestations, including neurocognitive and behavioral symptoms, may be present from childhood, initially mild and undetectable in daily life. Despite intensive management and technological therapeutic interventions, most pediatric patients do not achieve glycemic control targets for HbA1c.

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Autistic Spectrum Disorder (ASD) is a common neurodevelopmental disorder and no effective treatment for the core symptoms is currently available. The present study is part of a larger clinical trial assessing the effects of cannabis oil on autism co-morbidities. The aim of the present study was to assess the safety of a CBD-rich oil treatment in children and adolescents with ASD.

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In recent years there has been growing interest in the potential benefits of CBD-rich cannabis treatment for children with ASD. Several open label studies and one double-blind placebo-controlled study have reported that CBD-rich cannabis is safe and potentially effective in reducing disruptive behaviors and improving social communication. However, previous studies have mostly based their conclusions on parental reports without the use of standardized clinical assessments.

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Objectives: We will demonstrate that FIRDA (frontal intermittent rhythmic delta activity)-otherwise related to systemic disorders and encephalopathy-has a role as an epileptic biomarker of deep-seated midline SOZ. Its abolishment following SEEG-guided radiofrequency of such SOZ correlates with clinical improvement suggesting its role as a noninvasive biomarker of otherwise inaccessible SOZs.

Methods: We report the case of AK who was admitted with "psychiatric and gastrointestinal complaints.

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A child with a A350V IQSEC2 missense mutation resulting in drug-resistant epilepsy stops having seizures when he has a fever. We demonstrate that raising the body temperature of the child using a commercial Jacuzzi dramatically reduces his seizures and appears to improve his social behavioral interactions.

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Aims: To report a novel mutation associated with developmental delay, epilepsy, and neonatal diabetes-DEND Syndrome, responsive to a novel management combination.

Methods: We describe the investigation, treatment, and genetic diagnosis of a newborn diagnosed with DEND syndrome.

Results: The patient was found to be de-novo heterozygous for pathogenic KCNJ11 missense variant: c.

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Article Synopsis
  • Vacuolar H-ATPases (V-ATPases) are crucial for transporting protons across cell membranes to help acidify organelles, with ATP6V0A1 being a key gene linked to brain development.
  • Variants in ATP6V0A1 are associated with developmental issues and epileptic encephalopathy in humans, showcasing significant lysosomal dysfunction and impaired cellular processes.
  • Research on mice with these variants confirms that ATP6V0A1 plays a vital role in neuronal health and connectivity, as mutations can lead to severe developmental problems and affect neurotransmitter levels.
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p21-activated kinases (PAKs) are protein serine/threonine kinases stimulated by Rho-family p21 GTPases such as CDC42 and RAC. PAKs have been implicated in several human disorders, with pathogenic variants in PAK3 associated with intellectual disability and several PAK members, especially PAK1 and PAK4, overexpressed in human cancer. Recently, de novo PAK1 variants were reported to be causative of neurodevelopmental disorder (ND) with secondary macrocephaly in three patients.

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Article Synopsis
  • - Mutations in the SCN2A gene are linked to neonatal seizures and various epilepsy syndromes, and treatments with traditional sodium channel blockers (SCBs) like phenytoin have shown effectiveness in managing these seizures.
  • - A study highlighted two neonates with SCN2A mutations who initially responded to phenytoin but ultimately achieved complete seizure control with lacosamide, indicating potential benefits of this newer SCB.
  • - It's recommended that SCBs be used early in the treatment of intractable neonatal seizures, and further clinical trials on lacosamide are necessary to evaluate its safety and effectiveness for genetic and other neonatal seizures.
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Introduction: Many of the medications prescribed to children are off-label and/or unlicensed because pharmacologic evaluations have not been performed in this age group.

Methods: All drugs prescribed to patients admitted to the neonatal intensive care units (NICU) (n = 134) and pediatric intensive care units (PICU) (n = 56) during a 2-month observation period were recorded and classified according to patient age, drug license status, indicated use, and typical dosing, frequency and way of administration. Results were compared with prior data collected in 2002, from the same units.

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Introduction: The vagus nerve stimulation (VNS) is used for treatment of drug-resistant epilepsy but laryngeal side effects are common. We tried to improve VNS by modifying the implantation procedure. The aim was to reduce the rate of side effects that have prevented using VNS to its full capacity.

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Aim: There are few reports on the tolerability and efficacy of perampanel, a new antiepileptic drug with a novel mechanism of action, in children and adolescents. We aimed to describe our experience with perampanel add-on and mono-therapy in children with refractory epilepsy.

Method: Computerized medical records of children treated with perampanel in the paediatric neurology clinic from December 2012 to October 2015 were reviewed.

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Objective: IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants.

Methods: Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search.

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Article Synopsis
  • Non-sedated sleep-deprived EEG recordings in children, especially those with behavioral disorders, can be challenging, but this study shows they are feasible.
  • A review of 261 pediatric patients reveals that only 15% had behavioral disorders, with a significant portion of children not falling asleep during the EEG.
  • The study concludes that while sleep duration and presence of certain EEG features weren’t significantly affected by behavioral issues or age, further research is needed to understand why some children don’t sleep during these recordings.
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A multicenter retrospective study was conducted to investigate the perinatal factors, imaging findings and clinical characteristics of hemiplegic cerebral palsy with a particular focus on children born prematurely. Our cohort included 135 patients of whom 42% were born prematurely; 16% were extreme premature infants who were born at 30 weeks or earlier. Nineteen (14%) were twins.

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Article Synopsis
  • Levetiracetam is a medication used as an additional treatment for various seizure types, but there's limited research on its effects in children with hard-to-treat epilepsy.
  • A study reviewed medical records of 50 children to analyze the relationship between blood levels of levetiracetam and its effectiveness or side effects.
  • The findings showed no significant link between serum levels, dosage, effectiveness, or adverse effects, suggesting routine serum concentration monitoring may not be necessary for all pediatric patients on levetiracetam.
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Background: In 2003, several hundred Israeli infants risked thiamine deficiency after being fed a soy-based formula deficient in thiamine. Approximately 20 patients were seriously affected, and three of them died. We report the clinical presentation of acute encephalopathy in 11 children and the long-term sequelae of eight children who initially survived.

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Background: Despite the introduction of multiple new antiepileptic drugs in the past two decades, many patients with epilepsy continue to experience uncontrolled seizures or significant side effects.

Aim: To present our experience with felbamate therapy in children with drug-resistant epilepsy.

Methods: We retrospectively reviewed the medical charts and video-EEG recordings of all patients receiving felbamate until May 2012.

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Aim: To identify the patients who are more likely to experience a seizure during short-term EEG recording.

Methods: We retrospectively reviewed the EEG recordings and medical records of 294 patients, who were admitted to the Pediatric Departments in Assaf Harofeh Medical Center, and referred for a short-term EEG during a 5-years period following a seizure.

Results: Fifteen (5.

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Epileptic encephalopathies are genetically heterogeneous severe disorders in which epileptic activity contributes to neurological deterioration. We studied two unrelated children presenting with a distinctive early-onset epileptic encephalopathy characterized by refractory epilepsy and absent developmental milestones, as well as thick and short corpus callosum and persistent cavum septum pellucidum on brain MRI. Using whole-exome sequencing, we identified biallelic mutations in seizure threshold 2 (SZT2) in both affected children.

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Epilepsy is quite a common disorder in the child and adolescent population, and it has been studied for many years. Recently, a better understanding has been achieved regarding the comorbidities in epilepsy, including: major depression, anxiety, learning disabilities, etc..

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The correlation between lamotrigine serum concentration, efficacy, and toxicity in children is controversial. The database of the Clinical Pharmacology Laboratory at Assaf Harofeh Medical Center was retrospectively searched to identify lamotrigine serum concentrations in children aged 2-19 years with refractory epilepsy who received lamotrigine as monotherapy or polytherapy from 2007-2010. Data collected included age at epilepsy onset, additional antiepileptic drugs, lamotrigine dose, monthly seizure frequency before and after lamotrigine treatment, and side effects.

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