Associated Papers
Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.
Fan J et al.
Frontiers in Cardiovascular Medicine, 2024
38450374 (PubMed )
Supplement: Table9.xls › Sheet2
CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD et al.
Human Mutation, 2020
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
Lee CG et al.
Plos One, 2018
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Hammer MF et al.
Plos One, 2017
28686619 (PubMed )
Supplement: pone.0180485.s008.xlsx › Sheet1
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