[HTML][HTML] Behaviorally consequential astrocytic regulation of neural circuits

J Nagai, X Yu, T Papouin, E Cheong, MR Freeman… - Neuron, 2021 - cell.com
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 …

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
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

V Pucino, M Certo, V Bulusu, D Cucchi, K Goldmann… - Cell metabolism, 2019 - cell.com
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 …

Developmental and epileptic encephalopathies

IE Scheffer, S Zuberi, HC Mefford, R Guerrini… - Nature Reviews …, 2024 - nature.com
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
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 …

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 …

Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - Elsevier
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 …

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 …

Dendritic structural plasticity and neuropsychiatric disease

MP Forrest, E Parnell, P Penzes - Nature Reviews Neuroscience, 2018 - nature.com
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 …

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

RE Rodin, Y Dou, M Kwon, MA Sherman… - Nature …, 2021 - nature.com
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 …