Analyses of epigenetic profiles using ATAC-seq provide a comprehensive investigation of the chromatin landscape in hampered GABAergic differentiation in a DS-patient iPSC-derived disease model.

A human cellular model of a prototypical form of intractable childhood epilepsy supports selective impairment of inhibitory neurons as a key pathophysiological mechanism.

Electrophysiology, optogenetics, and imaging in a mouse model of Dravet syndrome reveals dentate gyrus circuit dysfunction driven by hyperexcitability of the perforant path input from entorhinal cortex that can be modulated by recruitment of parvalbumin-expressing inhibitory interneurons.

Cellular and chemogenetic approaches identify a novel mode of chemotransduction involving regulation of basal breathing by CO₂/H+-dependent disinhibition.

In neocortex, Nav1.1 is expressed in neocortical pyramidal tract projection neurons and a minor subpopulation of cortico-cortical projection neurons in addition to its predominant expression in inhibitory neurons, while the majority of cortico-thalamic, cortico-striatal, and cortico-cortical neurons express Nav1.2.

Two genetically distinct Stxbp1 haploinsufficiency mouse models exhibit seizures and impairments in cognitive, psychiatric, and motor functions, representing robust preclinical models of STXBP1 encephalopathy with both construct and face validity.

RAI1 regulates molecular signalling and intrinsic excitability of hypothalamic brain-derived neurotrophic factor neurons important for energy homeostasis.

An epilepsy-associated potassium channel variant causes neuron-type-dependent alterations in ionic currents, neuronal excitability, and network connectivity.

Variants in FGF13, associated with developmental and epileptic encephalopathies, alter neuronal excitability by affecting inhibitory neurons and by a sodium channel-independent mechanism.