Advancing the use of genome-wide association studies for drug repurposing
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …
complex diseases, which are broadly expected to lead to the identification of new drug …
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 …
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …
ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions
Abstract In 2017, the International League Against Epilepsy (ILAE) Classification of
Epilepsies described the “genetic generalized epilepsies”(GGEs), which contained the …
Epilepsies described the “genetic generalized epilepsies”(GGEs), which contained the …
Genetic variants associated with longitudinal changes in brain structure across the lifespan
Human brain structure changes throughout the lifespan. Altered brain growth or rates of
decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …
decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …
Brain cell type–specific enhancer–promoter interactome maps and disease-risk association
Noncoding genetic variation is a major driver of phenotypic diversity, but functional
interpretation is challenging. To better understand common genetic variation associated with …
interpretation is challenging. To better understand common genetic variation associated with …
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 …
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …
Viral manipulation of functionally distinct interneurons in mice, non-human primates and humans
D Vormstein-Schneider, JD Lin, KA Pelkey… - Nature …, 2020 - nature.com
Recent success in identifying gene-regulatory elements in the context of recombinant adeno-
associated virus vectors has enabled cell-type-restricted gene expression. However, within …
associated virus vectors has enabled cell-type-restricted gene expression. However, within …
The ENIGMA Toolbox: multiscale neural contextualization of multisite neuroimaging datasets
Through harmonized procedures and by sharing site-specific brain metrics (for example,
cortical thickness) or aggregated statistical maps, ENIGMA has set the stage for large-scale …
cortical thickness) or aggregated statistical maps, ENIGMA has set the stage for large-scale …
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
L Montanucci, D Lewis-Smith, RL Collins… - Nature …, 2023 - nature.com
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders
with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk …
with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk …
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 …
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …