Cell excitability and its modulation by hormones and neurotransmitters involve the concerted
action of a large repertoire of membrane proteins, especially ion channels. Unique …

Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …

The epilepsies affect around 65 million people worldwide and have a substantial missing
heritability component. We report a genome-wide mega-analysis involving 15,212 …

Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …

Ion channels are crucial components of cellular excitability and are involved in many
neurological diseases. This review focuses on the sodium leak, G protein-coupled receptors …

Epilepsy is a common episodic neurological disorder or condition characterized by recurrent
epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies …

Copy number variants (CNVs) at chromosome 16p13. 11 have been associated with a
range of neurodevelopmental disorders including autism, ADHD, intellectual disability and …

The search for genes associated with common epilepsy, including both focal and
generalised epilepsies, has been intensive in the past few decades. Consequently, our …

The causes of genetic epilepsies are unknown in the majority of patients. HCN ion channels
have a widespread expression in neurons and increasing evidence demonstrates their …

Introduction The neuronal mechanisms of enduring seizure propensity and seizure
precipitation in juvenile myoclonic epilepsy (JME) are not known. We investigated these …