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 …
Advancing epilepsy genetics in the genomic era
CT Myers, HC Mefford - Genome medicine, 2015 - Springer
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology …
Abstract The 2017 International League Against Epilepsy classification has defined a three‐
tier system with epilepsy syndrome identification at the third level. Although a syndrome …
tier system with epilepsy syndrome identification at the third level. Although a syndrome …
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene
CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding
gene in which de novo loss-of-function variants cause developmental and epileptic …
gene in which de novo loss-of-function variants cause developmental and epileptic …
Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
Dravet syndrome and its mimics: Beyond SCN1A
D Steel, JD Symonds, SM Zuberi, A Brunklaus - Epilepsia, 2017 - Wiley Online Library
Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy
characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving …
characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving …
Visually sensitive seizures: An updated review by the Epilepsy Foundation
Light flashes, patterns, or color changes can provoke seizures in up to 1 in 4000 persons.
Prevalence may be higher because of selection bias. The Epilepsy Foundation reviewed …
Prevalence may be higher because of selection bias. The Epilepsy Foundation reviewed …
[HTML][HTML] From genotype to phenotype in Dravet disease
S Gataullina, O Dulac - Seizure, 2017 - Elsevier
Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within
the first year of life, often triggered by hyperthermia whatever its cause, including pertussis …
the first year of life, often triggered by hyperthermia whatever its cause, including pertussis …
The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective
B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …
[HTML][HTML] Protecting the aging genome
MA Petr, T Tulika, LM Carmona-Marin… - Trends in Cell …, 2020 - cell.com
Mounting evidence suggests that DNA damage plays a central role in aging. Multiple tiers of
defense have evolved to reduce the accumulation of DNA damage, including reducing …
defense have evolved to reduce the accumulation of DNA damage, including reducing …