Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
The human phenotype ontology in 2017
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
Genetic studies in intellectual disability and related disorders
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …
Genetic studies have identified an increasing collection of disease-causing genes. The …
Structures of the human HCN1 hyperpolarization-activated channel
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels underlie the control of
rhythmic activity in cardiac and neuronal pacemaker cells. In HCN, the polarity of voltage …
rhythmic activity in cardiac and neuronal pacemaker cells. In HCN, the polarity of voltage …
[PDF][PDF] The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster… - 2017 - repository.ubn.ru.nl
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
Phenotypic landscape of schizophrenia-associated genes defines candidates and their shared functions
Genomic studies have identified hundreds of candidate genes near loci associated with risk
for schizophrenia. To define candidates and their functions, we mutated zebrafish orthologs …
for schizophrenia. To define candidates and their functions, we mutated zebrafish orthologs …
Advancing epilepsy genetics in the genomic era
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 …
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Background We sought to investigate the diagnostic yield and mutation spectrum in
previously reported genes for early-onset epilepsy and disorders of severe developmental …
previously reported genes for early-onset epilepsy and disorders of severe developmental …
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller… - Nature …, 2015 - nature.com
Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of
severe epilepsies accompanied by intellectual disability and other neurodevelopmental …
severe epilepsies accompanied by intellectual disability and other neurodevelopmental …