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Epilepsy Res 2021 Apr 22;174:106646. Epub 2021 Apr 22.

New York University Langone, New York, NY, USA.

Objective: To evaluate the safety, tolerability, and pharmacokinetics of soticlestat, a first-in-class cholesterol 24-hydroxylase inhibitor, in adults with developmental and/or epileptic encephalopathies (DEE).

Methods: The study comprised a 30-day, randomized, double-blind, placebo-controlled phase (Part A), followed by a 55-day open-label phase (Part B) (ClinicalTrials.gov ID: NCT03166215) . Read More

Neurol Genet 2021 Apr 18;7(2):e579. Epub 2021 Mar 18.

Research Institute of the McGill University Health Centre (K.M.), Montreal, PQ; Division of Child Neurology (K.M.), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, PQ; Department of Neurology & Neurosurgery (K.M.), Montreal Children's Hospital, McGill University, Montreal, PQ; Child Neurology and Psychiatry (C.M.), Salesi Pediatric Hospital, United Hospitals of Ancona, Ancona, Italy; Division of Genetic Medicine (G.L.C., J.N., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Neurology (A.M.), Great Ormond Street Hospital for Children, London, UK; Developmental Neurosciences Programme (A.M.), UCL Great Ormond Street Institute of Child Health, London, UK; Neurology Network Melbourne (J.P.), Melbourne, Victoria, Australia; Murdoch Children's Research Institute (C.S., I.E.S.), Parkville, Victoria, Australia; Department of Paediatrics and Child Health (T.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Division of Neurology (S.M.), Department of Pediatrics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; Neurology Unit and Neurogenetic Laboratories (C.B., A.R., R.G.), Meyer Children's Hospital, Florence, Italy; Department of Clinical Genetics (R.H.S.), Great Ormond Street Hospital, London, UK; Epilepsy Research Centre (I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics (I.E.S.), Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia; and The Florey Institute of Neuroscience and Mental Health (I.E.S.), Heidelberg, Victoria, Australia.

Objective: To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and microcephaly, sleep disturbance, and ataxia.

Methods: We performed phenotyping on patients with deletions, duplications, or point mutations and a history of seizures.

Results: Twenty-three patients with MAND and seizures were included. Read More

Pan Afr Med J 2021 3;38:111. Epub 2021 Feb 3.

Departments of Pediatrics and Clinical Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Millions of patients, with suspected complex neurogenetic disorders, living in resource limited regions around the world have no access to genetic testing despite the rapidly expanding availability and decreasing costs of genetic testing in first world nations. The barriers to increasing availability of genetic testing in resource limited nations are multifactorial but can be attributed, in large part, to a lack of awareness of the power of genetic testing to lead to a rapid, cost-effective, diagnosis that potentially will have profound clinical implications on treatment and patient outcomes. We report our experience with whole exome sequencing (WES) done for the first time in 5 patients of African descent with a suspected neurogenetic disorder living in a resource limited setting on the Eastern Caribbean island of Barbados. Read More

Rev Neurol 2021 Apr;72(S01):S1-S10

Hospital Universitario de Santiago de Compostela, Santiago de Compostela, España.

Introduction: Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS) are two serious epileptic syndromes with paediatric onset which are refractory to therapy and are associated with an important increase in mortality rates and comorbidities compared to the general population. These pathologies have a strong impact on the lives of patients and their families, because they undergo multiple pharmacological therapies (many of them without specific indication), with frequent changes due to poor efficacy and associated adverse effects. The specialists who care for these patients highlight unmet needs and the lack of specific, safe and effective treatments for better management of the syndrome. Read More

Epilepsy Behav Rep 2021 31;15:100432. Epub 2021 Jan 31.

Cleveland Clinic, Epilepsy Center, Neurological Institute - Desk S50, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, United States.

Children with leukemia are at risk for epilepsy due to primary disease or neurotoxic therapies. We describe the phenotypes of drug-resistant epilepsy in 10 children with history of leukemia. Of 10 cases, 6 had features of Lennox-Gastaut syndrome, and 4 had focal epilepsy. Read More

Pharmacol Ther 2021 Apr 22:107866. Epub 2021 Apr 22.

Division of Clinical and Experimental Pharmacology, Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy.

In 2020, racemic-fenfluramine was approved in the U.S. and Europe for the treatment of seizures associated with Dravet syndrome, through a restricted/controlled access program aimed at minimizing safety risks. Read More

Childs Nerv Syst 2021 Apr 19. Epub 2021 Apr 19.

Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Background: Both corpus callosotomy (CC) and the ketogenic diet (KD) are commonly used in patients with Lennox Gastaut syndrome (LGS), as a significant proportion of these patients develop pharmacoresistant epilepsy. But no systematic review has yet compared the efficacy and safety of these two measures.

Methods: We conducted a systematic search on various databases to collating all available literature until 30th November 2020 with a primary objective to compare the efficacy of KD and CC in terms of the proportion of patients with complete seizure freedom, at least 75% and 50% reduction in seizure frequency at various time points after the institution of these modalities. Read More

Epilepsy Res 2021 Apr 2;173:106629. Epub 2021 Apr 2.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India. Electronic address:

Purpose: To assess epilepsy, motor function, cognitive, sleep, and quality of life outcomes and their predictors in a follow-up cohort with West syndrome (WS) at ≥5 years of age.

Methods: Cross-sectional evaluation in a follow-up cohort of WS (aged 5-14 years), between July 2018 and December 2019, was performed at a tertiary-care referral center in Northern India. 164 children were assessed in-person for epilepsy severity, functional status (gross motor and hand function), social quotient, behavioral comorbidities, sleep problems, and quality of life (QoL) using Early Childhood Epilepsy Severity Scale, Gross Motor Function Classification System, Manual Ability Classification System, Vineland Social Maturity Scale, Diagnostic and Statistical Manual of Mental disorders-5 criteria, Children's Sleep Habits Questionnaire, and PedsQL-Epilepsy module respectively. Read More

Seizure 2021 Apr 1;88:95-101. Epub 2021 Apr 1.

Department of Neurological Surgery, Weill-Cornell Medicine/NewYork-Presbyterian Hospital, 525 East 68th Street, Box 99, New York, NY, USA.

Purpose: A new class of heart-rate sensing, closed-loop vagal nerve stimulator (VNS) devices for refractory epilepsy may improve seizure control by using pre-ictal autonomic changes as an indicator for stimulation. We compared our experience with closed- versus open-loop stimulator implantation at a single institution.

Methods: We conducted a retrospective chart review of consecutive VNS implantations performed from 2004 to 2018. Read More

Cochrane Database Syst Rev 2021 04 7;4:CD003277. Epub 2021 Apr 7.

Department of Child Neuropsychiatry, Children's Hospital "G. Salesi", Ospedali Riuniti Ancona, Ancona, Italy.

Background: Lennox-Gastaut syndrome (LGS) is an age-specific epilepsy syndrome characterised by multiple seizure types, including drop seizures. LGS has a characteristic electroencephalogram, an onset before age eight years and an association with drug resistance. This is an updated version of the Cochrane Review published in 2013. Read More

Neurosciences (Riyadh) 2021 04;26(2):218-219

From the Division of Pediatric Neurology (Tabarki, Hundallah)Department of Pediatrics, and Department of Neurology (Biary), Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

Epilepsia 2021 May 2;62(5):1130-1140. Epub 2021 Apr 2.

Greenwich Biosciences, Inc., Carlsbad, CA, USA.

Objective: To estimate time to onset of cannabidiol (CBD) treatment effect (seizure reduction and adverse events [AEs]), we conducted post hoc analyses of data from two randomized, placebo-controlled, Phase 3 trials, GWPCARE3 (NCT02224560) and GWPCARE4 (NCT02224690), of patients with Lennox-Gastaut syndrome.

Methods: Patients received plant-derived pharmaceutical formulation of highly purified CBD (Epidiolex, 100 mg/ml oral solution) at 10 mg/kg/day (CBD10; GWPCARE3) or 20 mg/kg/day (CBD20; both trials) or placebo for 14 weeks. Treatment started at 2. Read More

Acta Neurol Belg 2021 Mar 29. Epub 2021 Mar 29.

Medical Faculty, Department of Neurology, Marmara University, Istanbul, Turkey.

Clobazam (CLB) is an effective anticonvulsant used as an adjunctive treatment for several seizures and epilepsy syndromes. Data are limited on efficacy and safety of CLB as add-on therapy for epileptic encephalopaties (EEs) other than Lennox-Gastaut syndrome (LGS). This retrospective study aimed to assess efficacy and safety of long-term CLB add-on therapy for various EE syndromes. Read More

Seizure 2021 Mar 19;88:1-6. Epub 2021 Mar 19.

Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.

Aim: We retrospectively examined patients with childhood-onset epilepsy who transitioned from pediatric to adult care to reveal the clinical characteristics and evaluate the complexity of transitioning.

Methods: The subjects were 220 patients (89 males, 131 females) who had been treated at our pediatric epilepsy clinic and had transferred to adult care between 2014 and 2018 without attending a transition clinic or program. The demographic data of the patients were retrospectively analyzed. Read More

Clin Neurophysiol 2021 May 10;132(5):1126-1137. Epub 2021 Mar 10.

Department of Clinical Neurophysiology, Necker-Enfants-Malades Hospital, Assistance Publique -Hôpitaux de Paris, Paris, France; Université de Paris, Paris, France.

Objective: We aimed to describe epilepsy and EEG patterns related to vigilance states and age, in chromosome15-long-arm-duplication-syndrome (dup15q) children with epilepsy, in both duplication types: interstitial (intdup15) and isodicentric (idic15).

Methods: Clinical data and 70 EEGs of 12 patients (5 intdup15, 7 idic15), followed from 4.5 m. Read More

J Child Neurol 2021 Mar 25:8830738211000514. Epub 2021 Mar 25.

Department of Pediatrics and Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

Objective: Children with infantile spasms may develop Lennox-Gastaut syndrome. The diagnostic criteria for Lennox-Gastaut syndrome are vague, and many experts use varying combinations of the following criteria for diagnosis: paroxysmal fast activity on electroencephalography (EEG), slow spike and wave on EEG, developmental delay, multiple seizure types, and nocturnal tonic seizures. Our objective was to determine the prevalence of Lennox-Gastaut syndrome in a high-risk cohort of children with a history of infantile spasms and the characteristics of infantile spasms that were associated with the diagnosis of Lennox-Gastaut syndrome. Read More

CNS Drugs 2021 Mar 22;35(3):265-281. Epub 2021 Mar 22.

Department of Neuroscience, Biomedicine and Movement Science, University of Verona, Verona, Italy.

Background: Cannabidiol (CBD), which is one major constituent of the Cannabis sativa plant, has anti-seizure properties and does not produce euphoric or intrusive side effects. A plant-derived, highly purified CBD formulation with a known and constant composition has been approved by the US Food and Drug Administration for the treatment of seizures associated with Dravet syndrome, Lennox-Gastaut syndrome, and tuberous sclerosis complex. In the European Union, the drug has been authorized by the European Medicines Agency for the treatment of seizures associated with Dravet syndrome and Lennox-Gastaut syndrome, in conjunction with clobazam, and is under regulatory review for the treatment of seizures in patients with tuberous sclerosis complex. Read More

Front Genet 2021 5;12:669107. Epub 2021 Mar 5.

Rare-Disease Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, South Korea.

[This corrects the article DOI: 10.3389/fgene.2020. Read More

Front Pharmacol 2021 3;12:637801. Epub 2021 Mar 3.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

Data on the clinical pharmacokinetics of cannabidiol (CBD) are scanty. We explored the effect of demographic and clinical variables on plasma concentrations of purified CBD in patients with Dravet (DS) and Lennox-Gastaut syndrome (LGS). The study design was an open, prospective, multicenter expanded access program (EAP). Read More

Ann Neurol 2021 Mar 21. Epub 2021 Mar 21.

Department of Physiology, National Taiwan University College of Medicine, Taipei, Taiwan.

Objective: Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy frequently associated with multiple types of seizures. The classical Na channel inhibitors are in general ineffective against the seizures in LGS. Rufinamide is a new Na channel inhibitor, but approved for the treatment of LGS. Read More

Epilepsy Res 2021 May 13;172:106575. Epub 2021 Feb 13.

Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Department of Neurology, 34098, Istanbul, Turkey. Electronic address:

Purpose: Lennox-Gastaut syndrome (LGS) is a severe childhood-onset epileptic encephalopathy characterized by the presence of multiple types of intractable seizures, cognitive impairment, and specific electroencephalogram (EEG) patterns. The aim of this study was to investigate the electroclinical features of patients with LGS during adulthood.

Methods: We retrospectively identified the medical records of 20 patients aged over 18 years with a diagnosis of LGS from 3896 patients with epilepsy. Read More

J Vasc Surg Cases Innov Tech 2021 Mar 28;7(1):133-136. Epub 2021 Jan 28.

Division of Plastic Surgery, University of Alabama at Birmingham School of Medicine, Birmingham, Ala.

A pseudoaneurysm of the proximal right brachial artery is rare, with most caused by penetrating or blunt trauma. We report the case of a 41-day-old patient with a large iatrogenic pseudoaneurysm of the right brachial artery that had been induced by a puncture lesion during peripherally inserted central catheter placement for treatment of Lennox-Gastaut syndrome. The patient was successfully treated with a multidisciplinary approach, that consisted of direct excision of the pseudoaneurysm, followed by microvascular direct anastomosis. Read More

Brain 2021 Mar 9. Epub 2021 Mar 9.

Department of Psychology, University of California Los Angeles, 3423 Franz Hall, Los Angeles, California 90095, USA.

A common observation in EEG research is that consciousness vanishes with the appearance of delta (1 - 4 Hz) waves, particularly when those waves are high amplitude. High amplitude delta oscillations are very frequently observed in states of diminished consciousness, including slow wave sleep, anaesthesia, generalised epileptic seizures, and disorders of consciousness such as coma and vegetative state. This strong correlation between loss of consciousness and high amplitude delta oscillations is thought to stem from the widespread cortical deactivation that occurs during the "down states" or troughs of these slow oscillations. Read More

Epilepsia Open 2021 03 8;6(1):206-215. Epub 2021 Feb 8.

Department of Psychiatric Nursing College of Nursing B.P. Koirala Institute of Health Sciences Dharan Nepal.

Objective: It is often difficult to diagnose epilepsy syndromes in resource-limited settings. This study was aimed to investigate the prospect of ascertaining the diagnosis, clinical profile, and treatment outcomes of epilepsy syndromes (ESs) among children in a resource-limited setting.

Methods: This was a descriptive study done from 01/07/2009 to 15/06/2017 among children (1-17 years of age) with unprovoked seizures presenting to the pediatric neurology clinic of a university hospital in eastern Nepal. Read More

Pharmacoeconomics 2021 Apr 6;39(4):473-475. Epub 2021 Mar 6.

GW Pharma Ltd, London, UK.

Pharmacoeconomics 2021 Apr 6;39(4):477-478. Epub 2021 Mar 6.

The Comparative Health Outcomes, Policy and Economics (CHOICE) Institute, Department of Pharmacy, University of Washington, Seattle, WA, USA.

Aust Prescr 2021 Feb 17;44(1):27-28. Epub 2020 Dec 17.

Front Psychiatry 2021 11;12:638032. Epub 2021 Feb 11.

Centro Brasileiro de Informações Sobre Drogas Psicotrópicas (CEBRID), Department of Preventive Medicine, Federal University of São Paulo, UNIFESP, São Paulo, Brazil.

Although cannabis has been known for ages as an "alternative medicine" to provide relief from seizures, pain, anxiety, and inflammation, there had always been a limited scientific review to prove and establish its use in clinics. Early studies carried out by Carlini's group in Brazil suggested that cannabidiol (CBD), a non-psychotropic phytocannabinoid present in , has anticonvulsant properties in animal models and reduced seizure frequency in limited human trials. Over the past few years, the potential use of cannabis extract in refractory epilepsy, including childhood epilepsies such as Dravet's syndrome and Lennox-Gastaut Syndrome, has opened a new era of treating epileptic patients. Read More

Epilepsia 2021 Apr 27;62(4):857-873. Epub 2021 Feb 27.

Divisions of Child and Adolescent Neurology and Epilepsy, Mayo Clinic, Rochester, Minnesota, USA.

Developmental and epileptic encephalopathies (DEEs) are among the most challenging of all epilepsies to manage, given the exceedingly frequent and often severe seizure types, pharmacoresistance to conventional antiseizure medications, and numerous comorbidities. During the past decade, efforts have focused on development of new treatment options for DEEs, with several recently approved in the United States or Europe, including cannabidiol as an orphan drug in Dravet and Lennox-Gastaut syndromes and everolimus as a possible antiepileptogenic and precision drug for tuberous sclerosis complex, with its impact on the mammalian target of rapamycin pathway. Furthermore, fenfluramine, an old drug, was repurposed as a novel therapy in the treatment of Dravet syndrome. Read More

Seizure 2021 Mar 17;86:168-174. Epub 2021 Feb 17.

Division of Neurology, Department of Pediatrics, Children's Mercy Kansas City, United States.

Objective: Lennox-Gastaut syndrome (LGS) is a severe drug-resistant epilepsy (DRE) of childhood. The Vagus Nerve Stimulator (VNS) is established as a safe and effective treatment for DRE. This study assesses efficacy and tolerability of the auto-stimulation VNS models in pediatric patients with LGS. Read More