The genetic landscape of the epileptic encephalopathies of infancy and childhood

A McTague, KB Howell, JH Cross, MA Kurian… - The Lancet …, 2016 - thelancet.com
Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …

Drug development in the era of precision medicine

SA Dugger, A Platt, DB Goldstein - Nature reviews Drug discovery, 2018 - nature.com
For the past three decades, the use of genomics to inform drug discovery and development
pipelines has generated both excitement and scepticism. Although earlier efforts …

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

JD Symonds, SM Zuberi, K Stewart, A McLellan… - Brain, 2019 - academic.oup.com
Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …

New epilepsy therapies in development

P Klein, RM Kaminski, M Koepp… - Nature Reviews Drug …, 2024 - nature.com
Epilepsy is a common brain disorder, characterized by spontaneous recurrent seizures, with
associated neuropsychiatric and cognitive comorbidities and increased mortality. Although …

Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - Elsevier
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 …

Recent advances in epilepsy

M Manford - Journal of neurology, 2017 - Springer
This paper reviews advances in epilepsy in recent years with an emphasis on therapeutics
and underlying mechanisms, including status epilepticus, drug and surgical treatments …

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

P Tinuper, F Bisulli, JH Cross, D Hesdorffer, P Kahane… - Neurology, 2016 - neurology.org
The syndrome known as nocturnal frontal lobe epilepsy is recognized worldwide and has
been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine …

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

X Zhu, S Petrovski, P **e, EK Ruzzo, YF Lu… - Genetics in …, 2015 - nature.com
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …

Pharmacoresistance–Epidemiology, mechanisms, and impact on epilepsy treatment

M Janmohamed, MJ Brodie, P Kwan - Neuropharmacology, 2020 - Elsevier
Understanding the natural history of and factors associated with pharmacoresistant epilepsy
provides the foundation for formulating mechanistic hypotheses that can be evaluated to …

Precision medicine and therapies of the future

SM Sisodiya - Epilepsia, 2021 - Wiley Online Library
Precision medicine in the epilepsies has gathered much attention, especially with gene
discovery pushing forward new understanding of disease biology. Several targeted …