Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
Seizure prediction—ready for a new era
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 …
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 …
functions, and their dysfunction can give rise to pathophysiological conditions ranging from …
Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures
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 …
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
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 …
Graph theoretical analysis provides a novel framework for analysing such complex …
Metabotropic glutamate receptors: from the workbench to the bedside
Metabotropic glutamate (mGlu) receptors were discovered in the mid 1980s and originally
described as glutamate receptors coupled to polyphosphoinositide hydrolysis. Almost 6500 …
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 …
often transiently lost, which makes it impossible for the individual to experience or respond …
Enhanced tonic GABAA inhibition in typical absence epilepsy
The cellular mechanisms underlying typical absence seizures, which characterize various
idiopathic generalized epilepsies, are not fully understood, but impaired γ-aminobutyric acid …
idiopathic generalized epilepsies, are not fully understood, but impaired γ-aminobutyric acid …
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
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 …
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
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant
genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies …
genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies …