Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

JK Knowles, I Helbig, CS Metcalf, LS Lubbers… - …, 2022 - Wiley Online Library
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

Neurobehavioural comorbidities of epilepsy: towards a network-based precision taxonomy

BP Hermann, AF Struck, RM Busch, A Reyes… - Nature Reviews …, 2021 - nature.com
Cognitive and behavioural comorbidities are prevalent in childhood and adult epilepsies
and impose a substantial human and economic burden. Over the past century, the classic …

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Nature genetics, 2023 - nature.com
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

JD Symonds, KS Elliott, J Shetty, M Armstrong… - Brain, 2021 - academic.oup.com
Epilepsies of early childhood are frequently resistant to therapy and often associated with
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …

The genetics of epilepsy

P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Genes4Epilepsy: an epilepsy gene resource

KL Oliver, IE Scheffer, MF Bennett, BE Grinton… - …, 2023 - Wiley Online Library
Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …

Genetic landscape of common epilepsies: advancing towards precision in treatment

S Thakran, D Guin, P Singh, P Singh, S Kukal… - International journal of …, 2020 - mdpi.com
Epilepsy, a neurological disease characterized by recurrent seizures, is highly
heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types …

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

JA López-Rivera, C Leu, M Macnee, J Khoury… - Brain, 2023 - academic.oup.com
Understanding the exact molecular mechanisms involved in the aetiology of epileptogenic
pathologies with or without tumour activity is essential for improving treatment of drug …

[HTML][HTML] Paradoxical hyperexcitability from NaV1. 2 sodium channel loss in neocortical pyramidal cells

PWE Spratt, RPD Alexander, R Ben-Shalom… - Cell Reports, 2021 - cell.com
Loss-of-function variants in the gene SCN2A, which encodes the sodium channel Na V 1.2,
are strongly associated with autism spectrum disorder and intellectual disability. An …

Epigenetic genes and epilepsy—emerging mechanisms and clinical applications

KMJ Van Loo, GL Carvill, AJ Becker… - Nature Reviews …, 2022 - nature.com
An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …