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 …

Seizure prediction—ready for a new era

L Kuhlmann, K Lehnertz, MP Richardson… - Nature Reviews …, 2018 - nature.com
Epilepsy is a common disorder characterized by recurrent seizures. An overwhelming
majority of people with epilepsy regard the unpredictability of seizures as a major issue …

Targeting voltage-gated calcium channels in neurological and psychiatric diseases

GW Zamponi - Nature reviews Drug discovery, 2016 - nature.com
Voltage-gated calcium channels are important regulators of brain, heart and muscle
functions, and their dysfunction can give rise to pathophysiological conditions ranging from …

Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures

V Crunelli, ML Lőrincz, C McCafferty, RC Lambert… - Brain, 2020 - academic.oup.com
Absence seizures in children and teenagers are generally considered relatively benign
because of their non-convulsive nature and the large incidence of remittance in early …

Altered functional–structural coupling of large-scale brain networks in idiopathic generalized epilepsy

Z Zhang, W Liao, H Chen, D Mantini, JR Ding, Q Xu… - Brain, 2011 - academic.oup.com
The human brain is a large-scale integrated network in the functional and structural domain.
Graph theoretical analysis provides a novel framework for analysing such complex …

Metabotropic glutamate receptors: from the workbench to the bedside

F Nicoletti, J Bockaert, GL Collingridge, PJ Conn… - …, 2011 - Elsevier
Metabotropic glutamate (mGlu) receptors were discovered in the mid 1980s and originally
described as glutamate receptors coupled to polyphosphoinositide hydrolysis. Almost 6500 …

Impaired consciousness in epilepsy

H Blumenfeld - The Lancet Neurology, 2012 - thelancet.com
Consciousness is essential to normal human life. In epileptic seizures consciousness is
often transiently lost, which makes it impossible for the individual to experience or respond …

Enhanced tonic GABAA inhibition in typical absence epilepsy

DW Cope, G Di Giovanni, SJ Fyson, G Orbán… - Nature medicine, 2009 - nature.com
The cellular mechanisms underlying typical absence seizures, which characterize various
idiopathic generalized epilepsies, are not fully understood, but impaired γ-aminobutyric acid …

15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy

I Helbig, HC Mefford, AJ Sharp, M Guipponi… - Nature …, 2009 - nature.com
Abstract We identified 15q13. 3 microdeletions encompassing the CHRNA7 gene in 12 of
1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in …

Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies

CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker… - Brain, 2010 - academic.oup.com
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant
genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies …