|
Table legend
|
|
Legend
for electrophysiological study
|
|
The functional alterations (funotype) of each mutant
were further classified into one of six categories, based mainly on (1)
sodium current changes, i.e., occurrences of noninactivating persistent
current, no sodium current, or decreased current density; (2) the channel
kinetic changes of activation and inactivation; (3) the recovery parameters
that influence channel availability.
|
|
|
|
|
Funotype
|
|
|
DE
|
Decreased excitability. DE indicates
altered kinetics of the channel leading to hypo-excitability, excluding
reduced current density; mutants with DE could produce normal sodium currents
after activation.
|
|
GOF
|
Gain of function. GOF is characterized by a noninactivating
persistent current, which may be accompanied by hyperexcitable kinetic
changes.
|
|
IE
|
Increased excitability. IE is characterized
by altered channel kinetics that lead to hyperexcitability, and differs from
GOF by lack of a noninactivating persistent current; mutants with IE could
produce normal sodium currents after activation and thus were less
dysfunctional than those with GOF.
|
|
LOF
|
Loss of function. LOF is defined by a lack
of sodium current (complete loss of function).
|
|
pLOF
|
Partial loss of function. pLOF is
characterized by reduced current density, which may be accompanied by
hypo-excitable changes of channel kinetics.
|
|
G-LOF
|
Gain-and-loss of function. G-LOF is a mixed
form of dysfunction with sodium current changes, featuring a persistent
current with hypo-excitable changes in channel kinetics, or reduced current
density with hyperexcitable changes in kinetics.
|
|
Artifical
|
In vitro construction, not identified in
patients.
|
|
f
|
Familial epilepsy
|