Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
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 …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
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 …
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 …
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
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 …
Current practice in diagnostic genetic testing of the epilepsies
Epilepsy genetics is a rapidly develo** field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …
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 …
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 …
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
Background Children with intellectual disability frequently have multiple co-morbid
neuropsychiatric conditions and poor physical health. Genomic testing is increasingly …
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 …
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
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 …
and the most accessible to genotype in large cohorts. However, they individually explain a …