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