Epilepsy in adults
Epilepsy is one of the most common serious brain conditions, affecting over 70 million
people worldwide. Its incidence has a bimodal distribution with the highest risk in infants and�…
people worldwide. Its incidence has a bimodal distribution with the highest risk in infants and�…
Astrocytes in the initiation and progression of epilepsy
Epilepsy affects~ 65 million people worldwide. First-line treatment options include> 20
antiseizure medications, but seizure control is not achieved in approximately one-third of�…
antiseizure medications, but seizure control is not achieved in approximately one-third of�…
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
IE Scheffer, S Berkovic, G Capovilla, MB Connolly…�- …, 2017 - Wiley Online Library
Summary The International League Against Epilepsy (ILAE) Classification of the Epilepsies
has been updated to reflect our gain in understanding of the epilepsies and their underlying�…
has been updated to reflect our gain in understanding of the epilepsies and their underlying�…
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG�…
disorders characterized by early-onset, often severe epileptic seizures and EEG�…
[HTML][HTML] GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Nature genetics, 2023 - nature.com
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here we report a multi-ancestry genome�…
about one-third are resistant to current treatments. Here we report a multi-ancestry genome�…
The genetics of epilepsy
P Perucca, M Bahlo, SF Berkovic�- Annual review of genomics�…, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic�…
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic�…
Developmental and epileptic encephalopathies: what we do and do not know
N Specchio, P Curatolo�- Brain, 2021 - academic.oup.com
Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to�…
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to�…
[HTML][HTML] Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Nature communications, 2018 - nature.com
The epilepsies affect around 65 million people worldwide and have a substantial missing
heritability component. We report a genome-wide mega-analysis involving 15,212�…
heritability component. We report a genome-wide mega-analysis involving 15,212�…
[HTML][HTML] Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of�…
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of�…
Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
J Oyrer, S Maljevic, IE Scheffer, SF Berkovic…�- Pharmacological�…, 2018 - ASPET
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The�…
Genetic studies have identified an increasing collection of disease-causing genes. The�…