000 | 01747 a2200517 4500 | ||
---|---|---|---|
005 | 20250515185754.0 | ||
264 | 0 | _c20091113 | |
008 | 200911s 0 0 eng d | ||
022 | _a1526-632X | ||
024 | 7 |
_a10.1212/WNL.0b013e3181b87959 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aRajakulendran, S | |
245 | 0 | 0 |
_aA patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A. _h[electronic resource] |
260 |
_bNeurology _cSep 2009 |
||
300 |
_a993-5 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAction Potentials _xgenetics |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aAtaxia _xgenetics |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aElectromyography |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aKv1.1 Potassium Channel _xgenetics |
650 | 0 | 4 |
_aMuscle Contraction _xgenetics |
650 | 0 | 4 |
_aMuscle Cramp _xgenetics |
650 | 0 | 4 |
_aMuscle Weakness _xgenetics |
650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aMyokymia _xgenetics |
650 | 0 | 4 |
_aMyotonic Disorders _xgenetics |
650 | 0 | 4 | _aNAV1.4 Voltage-Gated Sodium Channel |
650 | 0 | 4 |
_aSodium Channels _xgenetics |
700 | 1 | _aTan, S V | |
700 | 1 | _aMatthews, E | |
700 | 1 | _aTomlinson, S E | |
700 | 1 | _aLabrum, R | |
700 | 1 | _aSud, R | |
700 | 1 | _aKullmann, D M | |
700 | 1 | _aSchorge, S | |
700 | 1 | _aHanna, M G | |
773 | 0 |
_tNeurology _gvol. 73 _gno. 12 _gp. 993-5 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1212/WNL.0b013e3181b87959 _zAvailable from publisher's website |
999 |
_c19167580 _d19167580 |