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 …

[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome

RL Collins, JT Glessner, E Porcu, M Lepamets… - Cell, 2022 - cell.com
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Toward a refined genotype–phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia

I Blumcke, F Cendes, H Miyata, M Thom… - Brain …, 2021 - Wiley Online Library
Abstract Focal Cortical Dysplasia (FCD) is the most common cause of drug‐resistant focal
epilepsy in children and young adults. The diagnosis of currently defined FCD subtypes …

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 …

Current practice in diagnostic genetic testing of the epilepsies

I Krey, K Platzer, A Esterhuizen, SF Berkovic… - Epileptic …, 2022 - Wiley Online Library
Epilepsy genetics is a rapidly develo** field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Complexity in genetic epilepsies: a comprehensive review

C Rastin, LC Schenkel, B Sadikovic - International Journal of Molecular …, 2023 - mdpi.com
Epilepsy is a highly prevalent neurological disorder, affecting between 5–8 per 1000
individuals and is associated with a lifetime risk of up to 3%. In addition to high incidence …

[HTML][HTML] Data-driven historical characterization of epilepsy-associated genes

M Macnee, E Pérez-Palma, JA López-Rivera… - European Journal of …, 2023 - Elsevier
Many epilepsy-associated genes have been identified over the last three decades, revealing
a remarkable molecular heterogeneity with the shared outcome of recurrent seizures …

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

J Wolstencroft, F Wicks, R Srinivasan, S Wynn… - The Lancet …, 2022 - thelancet.com
Background Children with intellectual disability frequently have multiple co-morbid
neuropsychiatric conditions and poor physical health. Genomic testing is increasingly …

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay

K Kobow, S Jabari, T Pieper, M Kudernatsch… - Acta …, 2020 - Springer
Polymicrogyria (PMG) is a developmental cortical malformation characterized by an excess
of small and frustrane gyration and abnormal cortical lamination. PMG frequently associates …

Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure

L Balagué-Dobón, A Cáceres… - Briefings in …, 2022 - academic.oup.com
Single nucleotide polymorphisms (SNPs) are the most abundant type of genomic variation
and the most accessible to genotype in large cohorts. However, they individually explain a …