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Mattis, J.

Publications and source records attributed to Mattis, J..

3 recordsLinked to original sources

The impact of seizures on REM sleep and the cholinergic pedunculopontine nucleus in a mouse model of Dravet Syndrome

Sleep disruption is a common and burdensome feature in epilepsy, with rapid eye movement (REM) sleep particularly affected. While sleep disturbances in epilepsy patients are multifactorial, clinical evidence suggests that recent seizures acutely impair REM sleep architecture. To investigate this relationship, we used a haploinsufficient mouse model of Dravet Syndrome, which allows experimental control of seizure timing and burden. We found that hyperthermia-induced seizures profoundly decreased subsequent sleep, specifically impairing REM entry. In vivo fiber photometry revealed acute, seizure-induced activation of cholinergic neurons in the pedunculopontine nucleus (PPN), a brainstem structure critical for REM entry. We additionally found that repeated seizures triggered anatomical changes in the PPN, including reduced cholinergic neuron number and significant hypertrophy of remaining cholinergic neurons. These results suggest seizures are a driver of both acute and chronic disruption of PPN cholinergic networks, which in turn impair REM sleep in epilepsy. Our findings identify the PPN as a potential therapeutic target for interventions to address sleep-related sequelae of seizures.

neuroscience↗

Characterization and application of hyperthermia-evoked seizures in a mouse model of focal cortical dysplasia

Rodent models of drug-resistant epilepsy are widely used to uncover mechanisms of seizures and to test the efficacy of treatments; however, the stochastic and relatively infrequent nature of spontaneous seizures in these models makes it challenging to observe and manipulate peri-ictal activity, and to rapidly screen therapeutics. As fever has been identified as a clinical seizure trigger, we investigated the ability of induced hyperthermia to trigger seizures in a mouse model of focal cortical dysplasia (FCD), a common cause of drug-resistant epilepsy. Experimental mice were generated via in utero electroporation of a gain-of-function RHEB variant (RHEBp.P37L). In adult Rheb-FCD mice, hyperthermia elicited behavioral seizures [~]80% of the time, with a mean temperature threshold of [~]40 {degrees}C. Using this acute paradigm, as a proof-of-concept, we found that chemogenetic inhibition of a subset of excitatory neurons within the dysplasia significantly elevated the threshold for hyperthermia-evoked seizures. We then confirmed the relevance of this acute finding to spontaneous epileptiform activity, using repeated chemogenetic inhibition across chronic recordings to confirm a reduction of spontaneous seizures as well as interictal spikes. Overall, our data demonstrate that hyperthermia-evoked seizures can be readily elicited in Rheb-FCD mice, offering a tractable platform for evaluating therapeutic interventions targeting seizure susceptibility in focal epilepsy.

neuroscience↗

Medial septum parvalbumin-expressing inhibitory neurons are impaired in a mouse model of Dravet Syndrome

Dravet syndrome (DS) is a severe neurodevelopmental disorder caused by pathogenic variants in the SCN1A gene, which encodes the voltage-gated sodium channel Nav1.1 subunit. Experiments in animal models of DS - including the haploinsufficient Scn1a+/- mouse - have identified impaired excitability of interneurons in the hippocampus and neocortex; this is thought to underlie the treatment-resistant epilepsy that is a prominent feature of the DS phenotype. However, additional brain structures, such as the medial septum (MS), also express SCN1A. The medial septum is known to play an important role in cognitive function and thus may contribute to the intellectual impairment that also characterizes DS. In this study, we employed whole cell patch clamp recordings in acute brain slices to characterize the electrophysiological properties of MS neurons in Scn1a+/- mice versus age-matched wild-type littermate controls. We found no discernible genotype-related differences in MS cholinergic (ChAT) neurons, but significant dysfunction within MS parvalbumin-expressing (PV) inhibitory neurons in Scn1a+/- mice. We further identified heterogeneity of firing patterns among MS PV neurons, and additional genotype differences in the proportion of subtype representation. These results confirm that the MS is an additional locus of pathology in DS, that may contribute to co- morbidities such as cognitive impairment.

neuroscience↗