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Articles by Ingrid E. Scheffer
Global Epidemiology of Neonatal and Infantile-Onset Epilepsies and Epilepsy Syndromes (GENIE): A Systematic Review and Meta-Analysis Key Points Question What are the global incidence and prevalence of neonatal and infantile-onset epilepsies and epilepsy syndromes? Findings In this systematic review and meta-analysis of 86 population-based studies from 30 countries, the pooled cumulative incidence of infantile-onset epilepsies within the first 2 years of life was 236 per 100 000 live births.
Etiology-specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology-specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission
ESSES expands etiology-specific epilepsy syndromes to encompass the full spectrum of syndromes associated with a specific etiology. ESSES integrates etiology, biological impact, and the spectrum of epilepsy syndromes and associated morbidities. A genetic diagnosis alone is insufficient; variant functional effects may determine phenotype and guide treatment. ESSES extends beyond monogenic epilepsies to structural, metabolic, immune, infectious, and environmental etiologies.
Automated reanalysis of genomic data for rare disease diagnostics at scale
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Abstract Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necessary to ensure scalability, adoption and sustainability of iterative reanalysis.
By Matthew Welland, K. D. Ahlquist, Paul De Fazio, Christina A. Austin-Tse, Samantha J. Bryen, Rocio Rius, Michael Franklin, Caitlin Morrison, Giles Hall, Laura Gauthier, Alex Bloemendal, David Francis, Andrew Mallett, Amali Mallawaarachchi, Paul J. Lockhart, Richard J. Leventer, Ingrid E. Scheffer, Katherine Howell, Karin S. Kassahn, Hamish S. Scott, Julie McGaughran, John Christodoulou, David Thorburn, Bryony Thompson, Chirag Patel, Greg Smith, Anne H. O’Donnell-Luria, Simon Sadedin, Heidi Rehm, Sebastian Lunke, Jeremiah D. Wander, Kaitlin E. Samocha, Cas Simons, Daniel MacArthur, Zornitza Stark, Laura Wedd
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Nature
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Characterizing early behavioral and social-emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study - Scheffer - Epilepsia - Wiley Online Library
Early presentation and evolution of problematic behavior was often seen in young children with Dravet syndrome. Behavioral and social–emotional problems emerge before age 3 years and worsen through early childhood. The range of behaviors include inattention, externalizing behaviors (e.g., aggression), social withdrawal, and autistic features. Poorer communication and adaptive skills were associated with more severe problematic behaviors.
Childhood motor speech disorders: who to prioritise for genetic testing - European Journal of Human Genetics
Abstract The aetiology of childhood motor speech disorders of dysarthria and apraxia has been poorly understood. Recent evidence suggests a moderate genetic contribution for these rare and severe speech disorders. To date, however, no studies have examined genetic diagnostic yield for childhood apraxia of speech (CAS) and dysarthria in a clinical setting.
Time to Change the Drug Trial Paradigm for Dravet Syndrome: Designing Trials for the Disease Rather than Squeezing the Disease into the Trial
Potential Conflicts of interests I.E.S., P.P., and P.J.K. have no conflicts to report. Data Availability The data that support the findings of this study are available from the corresponding author upon reasonable request. References 1, , , et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 2017; 58: 512–521. 2, , , .
Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study
Cognitive and adaptive development had a critical threshold of slowing before age 2 years, worsening by age 3, and stagnating thereafter. Cognitive development progressed six times slower than expected in typical development, with gains of 3 months over an 18-month period. Executive dysfunction was present at baseline in children with Dravet syndrome older than age 2 years and worsened with age, diverging from typical development.
Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC)
Sleep‐related hypermotor epilepsy-No longer controversial
The diagnostic category sleep-related hypermotor epilepsy (SHE) is recognized in the International League Against Epilepsy (ILAE) Classification as a syndrome with onset at any age. The diagnosis of SHE underwent a long process of evolution, reaching a pivotal milestone in 2016, when a multidisciplinary panel that was following recognized methodological standards formally defined its boundaries.
Long‐term safety and effectiveness of fenfluramine in children and adults with Dravet syndrome
A total of 375 patients enrolled in this Dravet syndrome (DS) open-label extension (OLE) study; fenfluramine (FFA) median treatment duration was 824 days (n = 368). The five most common treatment-emergent adverse events (TEAEs): pyrexia, nasopharyngitis, decreased appetite, seizure, and decreased blood glucose; no valvular heart disease or pulmonary arterial hypertension was observed.
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease - npj Genomic Medicine
Abstract Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of precision medicine translates to improved outcomes.
Developmental and epileptic encephalopathies - Nature Reviews Disease Primers
Abstract Developmental and epileptic encephalopathies, the most severe group of epilepsies, are characterized by seizures and frequent epileptiform activity associated with developmental slowing or regression. Onset typically occurs in infancy or childhood and includes many well-defined epilepsy syndromes.
Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox-Gastaut syndrome in clinical practice
Fenfluramine (FFA) is an antiseizure medication (ASM) used in the treatment of seizures associated with Dravet syndrome (DS) and Lennox–Gastaut syndrome (LGS). FFA is initiated at 0.2 mg/kg/day but speed of titration may depend on age, weight, and concomitant medications. FFA is generally well-tolerated and associated with a low risk of clinically relevant drug–drug interactions, which are often observed with polypharmacy.
STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions
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Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children
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Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy
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Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development - Molecular Psychiatry
Ethical consent The study was approved by the Human Research Ethics Committee of The Royal Children’s Hospital, Melbourne, Australia (#37353). Written informed consent was obtained from parents or legal guardians. Participants and phenotyping Probands under age 18 years were ascertained with a clinical diagnosis of CAS and where parents and clinicians reported the current primary clinical concern as poor speech development due to childhood apraxia of speech [5].
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial | Epilepsy and Seizures | JAMA Neurology | JAMA Network [Skip to Navigation] Visual Abstract. Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome Figure 1. CONSORT Diagram Screening exclusion included patients who did not meet at least 1 entry or randomization criteria.
Lightning progress in child neurology in the past 20 years
Since the launch of The Lancet Neurology in 2002, the subsequent two decades have seen a revolution in our understanding of the neurological diseases affecting children. The tantalising early results and future promise of precision therapies to transform outcomes of these devastating diseases is extremely exciting. This major step change has been underpinned by technological advances, particularly in molecular genetics and imaging.
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies
Zimeng Yea Department of Medicine (Austin Health), Epilepsy Research Centre, University of Melbourne, Heidelberg, AustraliaView further author information , Mark F.
The Australian Academy of Health and Medical Sciences: an authoritative, independent voice in the Australian landscape
Advertisement Ingrid E Scheffer and Ian H Frazer Med J Aust 2021; 214 (11): .
More than vaccine needed to ensure continued COVID-19 success
First generation COVID-19 vaccines may prevent illness, but are unlikely to prevent infection altogether, say experts. In the following article, first published in The Conversation, Professor Tania Sorrell of the University of Sydney, Professor Ian Frazer of The University of Queensland, and Professor Ingrid Scheffer of the University of Melbourne, say a suite of measures will be needed to keep Australia safe in 2021.
Vaccines alone won't keep Australia safe in 2021. Here's what else we need to do
By any global measure, Australia’s response to the COVID pandemic has been a spectacular success. Public health measures introduced by state, territory and federal governments, with the help of the Australian community, have significantly reduced the impact of the disease. The response has come at significant economic and broader health costs, however. As the second wave in Victoria showed, success can be fragile.
Cannabidiol Transdermal Gel in Children and Adolescents with Developmental and Epileptic Encephalopathies: An Open-label Clinical Trial (1631)
Abstract Objective: This study evaluated the safety and efficacy of cannabidiol (CBD) transdermal gel in children with developmental and epileptic encephalopathies (DEEs). Background: The most severe group of epilepsies, DEEs, are characterized by frequent epileptiform activity that contributes to severe cognitive impairment and often, behavioral disturbances.
Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial
Key Points Question Is adjunctive cannabidiol at doses of 10 and 20 mg/kg/d superior to placebo in reducing convulsive seizure frequency in patients with Dravet syndrome? Findings This double-blind clinical trial randomized 199 children with Dravet syndrome to cannabidiol (10 or 20 mg/kg/d) or matched placebo for 14 weeks.
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
Case Series Ingrid E Scheffer Corresponding Author E-mail address: scheffer@unimelb.edu.au https://orcid.org/0000-0002-2311-2174 Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia Murdoch Children's Research Institute, Parkville, Victoria, Australia Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia...
Why should a neurologist worry about climate change?
Climate change is a feature of the Anthropocene era. Whilst individual extreme events remain difficult to ascribe to a given cause, collectively such occurrences are happening with a frequency that is beyond random chance. Why, as medical professionals and neurologists, should climate change concern us and what, if anything, can we do about it?
Efficacy of cannabinoids in paediatric epilepsy
There are hundreds of compounds found in the marijuana plant, each contributing differently to the antiepileptic and psychiatric effects. Cannabidiol (CBD) has the most evidence of antiepileptic efficacy and does not have the psychoactive effects of ∆9‐tetrahydrocannabinol. CBD does not act via cannabinoid receptors and its antiepileptic mechanism of action is unknown.
A case series of lacosamide as adjunctive therapy in refractory sleep‐related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy)
The aim of this study was to evaluate the efficacy and tolerability of open‐label lacosamide in patients with refractory sleep‐related hypermotor epilepsy. The study was a case review of eight patients with refractory sleep‐related hypermotor epilepsy treated with lacosamide. Seizure diaries compared the mean baseline seizure frequency with the most recent 3 months of follow‐up.
The management of epilepsy in children and adults
Epilepsy is a disease of the brain characterised by an enduring predisposition to generate epileptic seizures.1 It is one of the most common neurological illnesses, affecting individuals of any age and ethnicity. In industrialised countries, 3–4% of people will develop epilepsy during their lifetime. The risk is higher in resource-poor countries.2 Epilepsy has deleterious effects on social, vocational, physical and psychological wellbeing.
A case series of lacosamide as adjunctive therapy in refractory sleep-related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy)
The aim of this study was to evaluate the efficacy and tolerability of open-label lacosamide in patients with refractory sleep-related hypermotor epilepsy. The study was a case review of eight patients with refractory sleep-related hypermotor epilepsy treated with lacosamide. Seizure diaries compared the mean baseline seizure frequency with the most recent 3 months of follow-up.
Sleep problems in Dravet syndrome: a modifiable comorbidity
Many children with severe developmental and epileptic encephalopathies experience significant sleep disturbance, causing major disruption to the family's quality of life. We aimed to determine the frequency and nature of sleep problems in individuals with Dravet syndrome. Fifty-seven out of 96 questionnaires were completed. Forty-three out of 57 (75%) individuals had sleep problems.
A new classification and class 1 evidence transform clinical practice in epilepsy
Headache advances in 2017: a new horizon in migraine therapy
Occipital epilepsies: identification of specific and newly recognized syndromes
Occipital epilepsy syndromes Malformations of cortical development Malformations of cortical development are being recognized with increasing frequency as a cause of intractable epilepsy with the widespread use of MRI. A number of specific malformations can present as occipital epilepsy. Occipital cortical dysplasia Occipital cortical dysplasia with balloon cells was first described in the seminal paper on cortical dysplasia by Taylor and colleagues (Taylor et al., 1971).
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