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The genetic landscape of the epileptic encephalopathies of infancy and childhood
Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …
group of severe epilepsies characterised by several seizure types, frequent epileptiform …
Drug development in the era of precision medicine
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 …
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 …
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …
New epilepsy therapies in development
Epilepsy is a common brain disorder, characterized by spontaneous recurrent seizures, with
associated neuropsychiatric and cognitive comorbidities and increased mortality. Although …
associated neuropsychiatric and cognitive comorbidities and increased mortality. Although …
Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
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 …
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 …
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 …
been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine …
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …
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 …
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 …
discovery pushing forward new understanding of disease biology. Several targeted …