Our team at the Danish Epilepsy Centre are aiming to help improving diagnosis for individuals with severe genetic epilepsy through genetic testing, and to help raising awareness of genetic epilepsies. Making a genetic diagnosis has many implications for management and counseling, and help us to accurately document the natural history of genetic epilepsies. First step towards precision medicine is precision diagnosis!

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https://portal.findresearcher.sdu.dk/en/persons/rsmoller

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https://twitter.com/FiladelfiaGene1

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Rikke Steensbjerre Møller | LinkedIn

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GABAA Receptor antiseizure medication survey (filadelfia-science.dk)

Currently, in my laboratory, we focus on studying gamma-aminobutyric acid type A (GABAA) receptors. They are the primary inhibitory ion channels in the mammalian central nervous system. Loss of their function leads to epilepsies, autism, and other neurodevelopment diseases.

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https://physiology.case.edu/people/faculty/tingwei-mu/

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Video presentation of Dr. Mu's Proteostasis Strategy to correct GABAA protein misfolding diseases: (panopto.com)

The Kang Laboratory is interested in understanding the role of GABAergic signaling in disease conditions as well as in normal brain development. Currently, lab staff members are investigating the molecular pathophysiology of genetic variations in GABAA receptor subunits and two common pediatric syndromes: epilepsy and autism.

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https://medschool.vanderbilt.edu/pharmacology/person/katty-kang-m-d-ph-d/