Patino, Gustavo A

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