[HTML][HTML] Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Seizures and epilepsy: an overview for neuroscientists

CE Stafstrom, L Carmant - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
Epilepsy is one of the most common and disabling neurologic conditions, yet we have an
incomplete understanding of the detailed pathophysiology and, thus, treatment rationale for …

ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions

E Hirsch, J French, IE Scheffer, A Bogacz, T Alsaadi… - …, 2022 - Wiley Online Library
Abstract In 2017, the International League Against Epilepsy (ILAE) Classification of
Epilepsies described the “genetic generalized epilepsies”(GGEs), which contained the …

[HTML][HTML] 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 …

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 …

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 developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”

IE Scheffer, J Liao - European journal of paediatric neurology, 2020 - Elsevier
The recent introduction of the term 'developmental and epileptic encephalopathy'by the
International League Against Epilepsy has added another conceptual layer to …

[HTML][HTML] Advancing epilepsy genetics in the genomic era

CT Myers, HC Mefford - Genome medicine, 2015 - Springer
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

[HTML][HTML] Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity

KJ Yoon, HN Nguyen, G Ursini, F Zhang, NS Kim… - Cell stem cell, 2014 - cell.com
Defects in brain development are believed to contribute toward the onset of neuropsychiatric
disorders, but identifying specific underlying mechanisms has proven difficult. Here, we took …

Epilepsy and developmental disorders: Next generation sequencing in the clinic

JD Symonds, A McTague - European Journal of Paediatric Neurology, 2020 - Elsevier
Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …