Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Infantile spasms: a US consensus report

JM Pellock, R Hrachovy, S Shinnar, TZ Baram… - …, 2010 - Wiley Online Library
The diagnosis, evaluation, and management of infantile spasms (IS) continue to pose
significant challenges to the treating physician. Although an evidence‐based practice …

Eosinophil extracellular traps drive asthma progression through neuro-immune signals

Y Lu, Y Huang, J Li, J Huang, L Zhang, J Feng, J Li… - Nature cell …, 2021 - nature.com
Eosinophilic inflammation is a feature of allergic asthma. Despite mounting evidence
showing that chromatin filaments released from neutrophils mediate various diseases, the …

Identification of new epilepsy treatments: issues in preclinical methodology

AS Galanopoulou, PS Buckmaster, KJ Staley… - …, 2012 - Wiley Online Library
Preclinical research has facilitated the discovery of valuable drugs for the symptomatic
treatment of epilepsy. Yet, despite these therapies, seizures are not adequately controlled in …

Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome

L Chakrabarti, TK Best, NP Cramer, RSE Carney… - Nature …, 2010 - nature.com
Over-inhibition is thought to be one of the underlying causes of the cognitive deficits in
Ts65Dn mice, the most widely used model of Down syndrome. We found a direct link …

The GABAergic hypothesis for cognitive disabilities in down syndrome

A Contestabile, S Magara, L Cancedda - Frontiers in cellular …, 2017 - frontiersin.org
Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of
chromosome 21. DS affects multiple organs, but it invariably results in altered brain …

Epilepsy in children with Down syndrome

R Arya, M Kabra, S Gulati - Epileptic Disorders, 2011 - Springer
This review discusses the various aspects of epilepsy in Down syndrome (DS) from the
perspective of paediatric neurology. DS is the most common genetic cause of mental …

A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx (GCG) 10+ 7, with interneuronopathy, spasms in infancy, persistent seizures, and …

MG Price, JW Yoo, DL Burgess, F Deng… - Journal of …, 2009 - jneurosci.org
Infantile spasms syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms,
persistent seizures, mental retardation, and in some cases, autism. One of its monogenic …

Current understanding and neurobiology of epileptic encephalopathies

S Auvin, MR Cilio, A Vezzani - Neurobiology of disease, 2016 - Elsevier
Epileptic encephalopathies are a group of diseases in which epileptic activity itself
contributes to severe cognitive and behavioral impairments above and beyond what might …

A model of symptomatic infantile spasms syndrome

MH Scantlebury, AS Galanopoulou… - Neurobiology of …, 2010 - Elsevier
Infantile spasms are characterized by age-specific expression of epileptic spasms and
hypsarrhythmia and often result in significant cognitive impairment. Other epilepsies or …