Phenomic studies on diseases: potential and challenges

W Ying - Phenomics, 2023 - Springer
The rapid development of such research field as multi-omics and artificial intelligence (AI)
has made it possible to acquire and analyze the multi-dimensional big data of human …

Beyond the hammer and the scalpel: selective circuit control for the epilepsies

E Krook-Magnuson, I Soltesz - Nature neuroscience, 2015 - nature.com
Current treatment options for epilepsy are inadequate, as too many patients suffer from
uncontrolled seizures and from negative side effects of treatment. In addition to these clinical …

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

YCA Feng, DP Howrigan, LE Abbott, K Tashman… - The American Journal of …, 2019 - cell.com
Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …

A taxonomy of seizure dynamotypes

ML Saggio, D Crisp, JM Scott, P Karoly, L Kuhlmann… - Elife, 2020 - elifesciences.org
Seizures are a disruption of normal brain activity present across a vast range of species and
conditions. We introduce an organizing principle that leads to the first objective Taxonomy of …

De novo KCNB1 mutations in epileptic encephalopathy

A Torkamani, K Bersell, BS Jorge… - Annals of …, 2014 - Wiley Online Library
Objective Numerous studies have demonstrated increased load of de novo copy number
variants or single nucleotide variants in individuals with neurodevelopmental disorders …

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

ND Merner, MR Chandler, C Bourassa… - Frontiers in cellular …, 2015 - frontiersin.org
Many encoded gene products responsible for neurodevelopmental disorders (NDs) like
autism spectrum disorders (ASD), schizophrenia (SCZ), intellectual disability (ID), and …

Big data in epilepsy: clinical and research considerations. Report from the Epilepsy Big Data Task Force of the International League Against Epilepsy

SD Lhatoo, N Bernasconi, I Blumcke, K Braun… - …, 2020 - Wiley Online Library
Epilepsy is a heterogeneous condition with disparate etiologies and phenotypic and
genotypic characteristics. Clinical and research aspects are accordingly varied, ranging from …

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Epilepsy Phenome/Genome Project & Epi4K … - Annals of …, 2015 - Wiley Online Library
Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies
characterized by early onset, intractable seizures, and poor developmental outcomes. De …

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

J Chow, M Jensen, H Amini, F Hormozdiari, O Penn… - Genome medicine, 2019 - Springer
Abstract Background Neurodevelopmental disorders (NDDs) such as autism spectrum
disorder, intellectual disability, developmental disability, and epilepsy are characterized by …

Infantile spasms of unknown cause: predictors of outcome and genotype-phenotype correlation

CJ Yuskaitis, MRZ Ruzhnikov, KB Howell, IE Allen… - Pediatric …, 2018 - Elsevier
ABSTRACT BACKGROUND No large-scale studies have specifically evaluated the
outcomes of infantile spasms (IS) of unknown cause, previously known as cryptogenic or …