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Arrhythmia in Heart and Brain: KCNQ1 Mutations Link Epilepsy and Sudden Unexplained Death
TLDR
It is found that epilepsy occurs in mouse lines bearing dominant human LQT1 mutations for the most common form of cardiac long QT syndrome, which causes syncopy and sudden death. Expand
Kv1.1 Potassium Channel Deficiency Reveals Brain-Driven Cardiac Dysfunction as a Candidate Mechanism for Sudden Unexplained Death in Epilepsy
TLDR
The data suggest that Kv1.1 deficiency leads to impaired neural control of cardiac rhythmicity due in part to aberrant parasympathetic neurotransmission, making Kcna1 a strong candidate gene for human SUDEP. Expand
Genomic biomarkers of SUDEP in brain and heart
TLDR
Data is summarized on the relationship between neurocardiac genes that may contribute to a genetic susceptibility for SUDEP, discussing their brain-heart expression patterns and genotype-phenotype correlations in mouse models and people with epilepsy. Expand
The CD4 T cell-deficient mouse mutation nackt (nkt) involves a deletion in the cathepsin L (Ctsl) gene
TLDR
In vivo evidence is provided that the lysosomal cysteine protease cathepsin L plays a critical role in CD4+ T-cell selection in the thymus, and explains the similarities in skin and immune defects observed in nkt/nkt and Ctsl –/– mice. Expand
Transcompartmental reversal of single fibre hyperexcitability in juxtaparanodal Kv1.1‐deficient vagus nerve axons by activation of nodal KCNQ channels
TLDR
These results demonstrate a functional synergy between nodal and extranodal K+ channels and implicate KCNQ channels as potential targets for Kv1‐related peripheral nerve hyperexcitability. Expand
Masking epilepsy by combining two epilepsy genes
TLDR
A digenic mouse model of human idiopathic epilepsy is generated by combining two epilepsy-associated ion channel mutations with mutually opposing excitability defects and overlapping subcellular localization to identify intermediate excitability phenotypes at the network and axonal levels. Expand
Drosophila couch potato Mutants Exhibit Complex Neurological Abnormalities Including Epilepsy Phenotypes
TLDR
These complex neurological phenotypes of cpo mutants support an important role for cpo in regulating proper nervous system function, including seizure susceptibility. Expand
Gradient Index Microlens Implanted in Prefrontal Cortex of Mouse Does Not Affect Behavioral Test Performance over Time
TLDR
The results for the current study clear the way for combining behavioral studies with gradient index lens imaging in the prefrontal cortex, and potentially other regions of the mouse brain, to study structural, functional, and behavioral relationships in the brain. Expand
Severe respiratory changes at end stage in a FUS-induced disease state in adult rats
TLDR
FUS gene transfer to adult rats yielded a consistent pre-clinical model with relevant motor paralysis in the early to middle stages and respiratory dysfunction at the end stage and reproducibility of the data supports the use of this method to study other disease related genes and their combinations as well as a platform for disease modifying interventional strategies. Expand
Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy.
TLDR
Video-EEG-ECG monitoring in mouse models of epilepsy or other neurological disease provides a powerful tool to identify dysfunction at the level of the brain, heart, or brain-heart interactions. Expand
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