[HTML][HTML] Behaviorally consequential astrocytic regulation of neural circuits
Astrocytes are a large and diverse population of morphologically complex cells that exist
throughout nervous systems of multiple species. Progress over the last two decades has …
throughout nervous systems of multiple species. Progress over the last two decades has …
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 …
Lactate buildup at the site of chronic inflammation promotes disease by inducing CD4+ T cell metabolic rewiring
Accumulation of lactate in the tissue microenvironment is a feature of both inflammatory
disease and cancer. Here, we assess the response of immune cells to lactate in the context …
disease and cancer. Here, we assess the response of immune cells to lactate in the context …
Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay… - The American Journal of …, 2017 - cell.com
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …
Amino acid transporters revisited: New views in health and disease
P Kandasamy, G Gyimesi, Y Kanai… - Trends in biochemical …, 2018 - cell.com
Amino acid transporters (AATs) are membrane-bound transport proteins that mediate
transfer of amino acids into and out of cells or cellular organelles. AATs have diverse …
transfer of amino acids into and out of cells or cellular organelles. AATs have diverse …
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 …
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
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 …
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …
Dendritic structural plasticity and neuropsychiatric disease
The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …
and refined throughout development and into adulthood. Evidence from human and animal …
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
We characterize the landscape of somatic mutations—mutations occurring after fertilization—
in the human brain using ultra-deep (~ 250×) whole-genome sequencing of prefrontal cortex …
in the human brain using ultra-deep (~ 250×) whole-genome sequencing of prefrontal cortex …