A functional null mutation of SCN1B in a patient with Dravet syndrome. [electronic resource]
- The Journal of neuroscience : the official journal of the Society for Neuroscience Aug 2009
- 10764-78 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1529-2401
10.1523/JNEUROSCI.2475-09.2009 doi
Animals Arginine--genetics Biophysics Cell Line, Transformed Cysteine--genetics DNA Mutational Analysis Disease Models, Animal Electric Stimulation Epilepsies, Myoclonic--genetics Female Green Fluorescent Proteins--genetics Hippocampus--pathology Humans In Vitro Techniques Infant Male Mice Mice, Inbred C57BL Mice, Knockout Models, Molecular NAV1.1 Voltage-Gated Sodium Channel Nerve Tissue Proteins--deficiency Oocytes Polymorphism, Single Nucleotide--genetics Sodium Channels--deficiency Temperature Transfection Twins Voltage-Gated Sodium Channel beta-1 Subunit Xenopus laevis