A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. [electronic resource]
Producer: 20150312Description: 117-23 p. digitalISSN:- 1095-953X
- Action Potentials -- physiology
- Age of Onset
- Animals
- DNA Mutational Analysis
- Epilepsy -- genetics
- HEK293 Cells
- Hippocampus -- physiopathology
- Humans
- Membrane Potentials -- physiology
- Mutation, Missense
- NAV1.6 Voltage-Gated Sodium Channel -- genetics
- Neurons -- physiology
- Patch-Clamp Techniques
- Pyramidal Cells -- physiopathology
- Rats
- Rats, Sprague-Dawley
- Sequence Homology, Amino Acid
- Transfection
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
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