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 …

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 …

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology …

N Specchio, EC Wirrell, IE Scheffer, R Nabbout… - …, 2022 - Wiley Online Library
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 …

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene

VS Ganesh, K Riquin, N Chatron, E Yoon… - … England Journal of …, 2024 - Mass Medical Soc
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 …

Developmental and epileptic encephalopathies

IE Scheffer, S Zuberi, HC Mefford, R Guerrini… - Nature Reviews …, 2024 - nature.com
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
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 …

Visually sensitive seizures: An updated review by the Epilepsy Foundation

RS Fisher, JN Acharya, FM Baumer, JA French… - …, 2022 - Wiley Online Library
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 …

[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 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 …

[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 …