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developmental and epileptic encephalopathy
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Robin Nicholas Stringer M.Sc.
External person at Third Faculty of Medicine
8 publications
Publications
publication
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
2021 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Electrophysiological characterization of a Ca(v)3.2 calcium channel missense variant associated with epilepsy and hearing loss
2023 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Pathophysiology of ion channels in amyotrophic lateral sclerosis
2023 |
Third Faculty of Medicine
publication
Secretory carrier-associated membrane protein 2 (SCAMP2) regulates cell surface expression of T-type calcium channels
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia
2022 |
Third Faculty of Medicine
publication
A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca(v)3.2 T-type channel activity
2020 |
Central Library of Charles University
publication
Transcriptomic analysis of glycan-processing genes in the dorsal root ganglia of diabetic mice and functional characterization on Ca(v)3.2 channels
2020 |
Central Library of Charles University
publication
Functional identification of potential non-canonical N-glycosylation sites within Ca(v)3.2 T-type calcium channels
2020 |
First Faculty of Medicine
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