Impact of predictive, preventive and precision medicine strategies in epilepsy
R Nabbout, M Kuchenbuch - Nature Reviews Neurology, 2020 - nature.com
Over the last decade, advances in genetics, neuroimaging and EEG have enabled the
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …
30 years of second-generation antiseizure medications: impact and future perspectives
E Perucca, MJ Brodie, P Kwan, T Tomson - The Lancet Neurology, 2020 - thelancet.com
Summary Since 1989, 18 second-generation antiseizure medications have reached the
market, resulting in a greatly increased range of treatment options for patients and …
market, resulting in a greatly increased range of treatment options for patients and …
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants
JD Symonds, KS Elliott, J Shetty, M Armstrong… - Brain, 2021 - academic.oup.com
Epilepsies of early childhood are frequently resistant to therapy and often associated with
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …
Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy
P Curatolo, N Specchio, E Aronica - The Lancet Neurology, 2022 - thelancet.com
Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
Infantile spasms: outcome in clinical studies
R Riikonen - Pediatric neurology, 2020 - Elsevier
Children with infantile spasms are likely to have a poor outcome. Outcome measures for
infantile spasms include primary response to treatment, relapse of spasms, neurological …
infantile spasms include primary response to treatment, relapse of spasms, neurological …
Neurocognitive effects of antiseizure medications in children and adolescents with epilepsy
FMC Besag, MJ Vasey - Pediatric Drugs, 2021 - Springer
Impairments in cognition are common in epilepsy and may be caused or exacerbated by
antiseizure medications (ASMs). Positive effects on cognition may also be seen with some …
antiseizure medications (ASMs). Positive effects on cognition may also be seen with some …
Ganaxolone treatment for epilepsy patients: from pharmacology to place in therapy
Introduction: Nonsulfated neurosteroids can provide phasic and tonic inhibition through
activation of synaptic and extra-synaptic γ-aminobutyric acid (GABA) A receptors, exhibiting …
activation of synaptic and extra-synaptic γ-aminobutyric acid (GABA) A receptors, exhibiting …
[HTML][HTML] International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder
S Amin, M Monaghan, A Aledo-Serrano… - Frontiers in …, 2022 - frontiersin.org
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a
developmental and epileptic encephalopathy (DEE). The incidence is between~ 1: 40,000 …
developmental and epileptic encephalopathy (DEE). The incidence is between~ 1: 40,000 …
The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS)
JP Osborne, SW Edwards, F Dietrich Alber… - …, 2019 - Wiley Online Library
Objective To determine the underlying etiologies in a contemporary cohort of infants with
infantile spasms and to examine response to treatment. Methods Identification of the …
infantile spasms and to examine response to treatment. Methods Identification of the …
Medical treatment in infants and young children with epilepsy: Off‐label use of antiseizure medications. Survey Report of ILAE Task Force Medical Therapies in …
J Sourbron, S Auvin, A Arzimanoglou, JH Cross… - Epilepsia …, 2023 - Wiley Online Library
Abstract Objective Antiseizure medications (ASMs) remain the mainstay of epilepsy
treatment. These ASMs have mainly been tested in trials in adults with epilepsy, which …
treatment. These ASMs have mainly been tested in trials in adults with epilepsy, which …