Epilepsy: old syndromes, new genes
Sarah Weckhuysen1, Christian M Korff
1Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium, sarah.weckhuysen@molgen.vib-ua.be.
Abstract:
Next-generation sequencing technologies have tremendously increased the speed of gene discovery in monogenic epilepsies, enabling us to identify a genetic cause in an increasing proportion of patients, and to better understand the underlying pathophysiology of their disease. The rapid speed with which new genes are being described lately, confronts clinicians with the difficult task of keeping up to date with the continuous supply of new publications. This article aims to discuss some of the genes that were recently discovered in monogenic familial epilepsy syndromes or epileptic encephalopathies for which an underlying cause remained unknown for a long time.
Related Concept Videos
Epilepsy ll: Types
Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures l: Introduction
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
Antiepileptic Drugs: GABAergic Pathway Potentiators
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...


