TY  - GEN
AU  - Estacion,Mark
AU  - O'Brien,Janelle E
AU  - Conravey,Allison
AU  - Hammer,Michael F
AU  - Waxman,Stephen G
AU  - Dib-Hajj,Sulayman D
AU  - Meisler,Miriam H
TI  - A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
SN  - 1095-953X
PY  - 2015///0312
KW  - Action Potentials
KW  - physiology
KW  - Age of Onset
KW  - Animals
KW  - DNA Mutational Analysis
KW  - Epilepsy
KW  - genetics
KW  - HEK293 Cells
KW  - Hippocampus
KW  - physiopathology
KW  - Humans
KW  - Membrane Potentials
KW  - Mutation, Missense
KW  - NAV1.6 Voltage-Gated Sodium Channel
KW  - Neurons
KW  - Patch-Clamp Techniques
KW  - Pyramidal Cells
KW  - Rats
KW  - Rats, Sprague-Dawley
KW  - Sequence Homology, Amino Acid
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1016/j.nbd.2014.05.017
ER  -