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The primary interests of Dr. Eubanks' group relate to defining pathogenic mechanisms associated with rare X-linked genetic neurodevelopmental conditions, and testing new therapeutic strategies in different models of these specific conditions. The group is currently investigating conditions such as Rett syndrome (caused by mutations of the MECP2 gene), CDKL5 Deficiency Disorder (caused by mutations of the CDKL5 gene), and Bain syndrome (caused by mutations of the HNRNPH2 gene). The generation of models for additional conditions, including a rare epileptic encephalopathy (caused by mutations of the PIGA gene) are in development. The group employs both cell culture and mouse models of these conditions to define how specific mutations of the respective causal genes alter normal brain function and/or alters the normal progression of brain development. In the mouse models, the group employs behavioural interrogations, electrocorticography and electroencephalography, as well as in vivo and in vitro electrophysiology. In both mouse and cell culture systems, the group uses molecular, cell biological, pharmacological, and biochemical techniques to identify alterations in mRNA / protein levels and / or signaling pathways that arise from the specific mutation. From these observations we then test rationale-based strategies as first-line attempts to correct the observed alterations. The group's studies also generate novel transgenic mouse lines that can be used to address questions relating to our focus, and partners these studies with the testing of novel pharmacological agents as part of translational efforts. The group is well positioned to assess therapeutically meaningful endpoints for the translational studies, and have the skills needed to identify key deficits that can then be subsequently targeted. It is the group's intention to identify novel strategies that can someday be employed to treat patients with these conditions, with the ultimate goal being condition correction.
研究兴趣
论文共 116 篇作者统计合作学者相似作者
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Epilepsy Research (2018): 177-183
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#Papers: 116
#Citation: 5016
H-Index: 37
G-Index: 68
Sociability: 6
Diversity: 0
Activity: 0
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