[HTML][HTML] 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 …

A complex systems view on the current hypotheses of epilepsy pharmacoresistance

G Servilha‐Menezes, N Garcia‐Cairasco - Epilepsia Open, 2022 - Wiley Online Library
Drug‐resistant epilepsy remains to this day as a highly prevalent condition affecting around
one‐third of patients with epilepsy, despite all the research and the development of several …

[HTML][HTML] Variable expression of GABAA receptor subunit gamma 2 mutation in a nuclear family displaying developmental and encephalopathic phenotype

G Nwosu, SB Reddy, HRM Riordan… - International journal of …, 2022 - mdpi.com
Mutations in GABAA receptor subunit genes (GABRs) are a major etiology for
developmental and epileptic encephalopathies (DEEs). This article reports a case of a …

Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture

International League Against Epilepsy Consortium on … - MedRxiv, 2022 - medrxiv.org
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 trans-ethnic GWAS …

[HTML][HTML] Genetische Diagnostik der Epilepsien: Empfehlung der Kommission Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE)

C Boßelmann, I Borggräfe, W Fazeli, KM Klein… - Clinical …, 2023 - Springer
Die genetische Diagnostik bei an Epilepsie erkrankten Personen ist inzwischen weit
verbreitet und unstrittig sinnhaft geworden. Die Kenntnis einer genetischen Ätiologie kann …

Current principles in the management of drug-resistant epilepsy

NA Shlobin, JW Sander - CNS drugs, 2022 - Springer
Drug-resistant epilepsy is associated with poor health outcomes and increased economic
burden. In the last three decades, various new antiseizure medications have been …

The Seizure‐Associated Genes Across Species (SAGAS) database offers insights into epilepsy genes, pathways and treatments

L Gracie, D Rostami‐Hochaghan, B Taweel… - …, 2022 - Wiley Online Library
Objective Decades of genetic studies on people with many different epilepsies, and on many
nonhuman species, using many different technologies, have generated a huge body of …

[HTML][HTML] Identification of RNA N6-methyladenosine regulation in epilepsy: Significance of the cell death mode, glycometabolism, and drug reactivity

X Liu, Q Sun, Z Cao, W Liu, H Zhang, Z Xue… - Frontiers in …, 2022 - frontiersin.org
Epilepsy, a functional disease caused by abnormal discharge of neurons, has attracted the
attention of neurologists due to its complex characteristics. N6-methyladenosine (m6A) is a …

Combination of gene regulatory networks and sequential machine learning for drug repurposing

C Réda - 2022 - hal.science
Given the ever increasing cost of designing de novo molecules to target causes of diseases,
and the huge amount of currently available biological data, the development of systematic …

Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture

Z Landoulsi, P May, R Krause, SF Berkovic… - 2022 - orbilu.uni.lu
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 trans-ethnic GWAS …