Genetic Generalized Epilepsies

Abstract

In the International League Against Epilepsy's most recent revision of classification and terminology, the term idiopathic epilepsy, previously used to describe those epilepsies whose cause was unknown, but presumed genetic, has been removed. It has been replaced by the term genetic epilepsy, only to be used to describe epilepsy in which the etiology has a known or presumed genetic defect in which seizures are the core symptom of the disorder. The purpose of this article was to review the electroclinical spectrum of those epilepsies that would fall under this new designation of genetic epilepsies in the context of specific generalized epilepsy syndromes providing an update in the clinical, electroencephalographic, and genetic findings in these syndromes.

Sensorimotor network hypersynchrony as an endophenotype in families with genetic generalized epilepsy: A resting‐state functional magnetic resonance imaging study

“…1 An important concept emerging in studies of disease inheritance is endophenotype, 2 a heritable trait with a simpler genetic basis than the full disorder, which may be present in family members who do not have the disease. 1 An important concept emerging in studies of disease inheritance is endophenotype, 2 a heritable trait with a simpler genetic basis than the full disorder, which may be present in family members who do not have the disease.…”

“…There is strong evidence for the heritability of genetic (or idiopathic) generalized epilepsy (GGE). 1 An important concept emerging in studies of disease inheritance is endophenotype, 2 a heritable trait with a simpler genetic basis than the full disorder, which may be present in family members who do not have the disease. There is increasing interest in identifying endophenotypes in epilepsy.…”

Untangling the pathomechanisms of temporal lobe epilepsy—The promise of epileptic biomarkers and novel therapeutic approaches

“…transcranial magnetic stimulationBadawy et al (2006),Kamida et al (2007),Saisanen et al (2010) andSchmidt et al (2010) Uptake of ␣-methyltryptophan (AMT) withPET Chugani (2011) andFedi et al (2001) Altered neuronal function (e.g., gene expression profiles, protein products)Plasma and saliva determination of peptides, such as nesfatin-1 or ghrelinAydin et al (2009Aydin et al ( , 2011,Pitkanen and Lukasiuk (2011) and Portelli et al (2012) Gene expressionBadawy et al (2009aBadawy et al ( , 2009b,Elliott et al (2003),Ferraro (2014) andGallentine and Mikati (2012) Cell loss (e.g., hippocampal atrophy) Fluorodeoxyglucose PET, MRI, magnetoencephalography/magnetic source imaging, functional MRIChandra et al (2006) and Ogren et al (2009) Axonal growth (sprouting) Possibly volumetric and functional MRI Polli et al (2014)Synaptic reorganizationPossibly volumetric and functional MRIGomes andShinnar (2011) andNehlig (2011) Inflammatory changes Biochemical measurements of inflammatory mediators in blood and serumAronica et al (2011) andVezzani et al (2013) PET ligands to detect activated microgliaBanati (2002),Butler et al (2013) andKumar et al (2008) Quantification of BBB permeability changesDube et al (2010) andTomkins et al (2008) Altered glial function and gliosis MR spectroscopy PET ligands to detect activated microgliaBanati (2002),Butler et al (2013), Hammen et al (2008,…”

Practice Current: When do you stop antiepileptic drugs in patients with genetic generalized epilepsies and in those with focal epilepsies?

“…GGE is the current terminology for idiopathic generalized epilepsy. 7 This broad group comprises several subtypes, some of which have childhood onset and persist into adulthood. Evidence to guide AED withdrawal in this population of patients is lacking, as the majority of available studies on AED discontinuation in patients managed medically include primarily individuals with focal epilepsies (FEs).…”