Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation

Clinical Neurophysiology

Volumn 122, Issue 12, 2011, Pages 2537-2539

  Diaz Manera J ^a,b   Querol, L ^a   Clarimon J ^b,c   Yague S ^d   Illa, I ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^d INSTITUT UNIVERSITARI DEXEUS   (Spain)

Author keywords

Andersen Tawil; Exercise test; Fournier test; KJN2; Periodic paralysis

Indexed keywords

ARGININE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; POTASSIUM; TRYPTOPHAN;

ADULT; ANDERSEN SYNDROME; CASE REPORT; EAR MALFORMATION; ELECTROPHYSIOLOGY; EXERCISE TEST; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPERTELORISM; LETTER; MALE; MANDIBLE HYPOPLASIA; MUSCLE ACTION POTENTIAL; MUSCLE STRENGTH; POST EXERCISE ELECTROPHYSIOLOGICAL TEST; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL;

ADULT; ANDERSEN SYNDROME; ARRHYTHMIAS, CARDIAC; ELECTROPHYSIOLOGICAL PHENOMENA; EXERCISE; EXERCISE TEST; HUMANS; MALE; MUTATION; PARALYSES, FAMILIAL PERIODIC; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 80855144115     PISSN: 13882457     EISSN: 18728952     Source Type: Journal    
DOI: 10.1016/j.clinph.2011.04.025     Document Type: Letter

References (6)

1. Bendahhou S., Fournier E., Sternberg D., Bassez G., Furby A., Sereni C., et al. In vivo and in vitro functional characterization of Andersen's syndrome mutations. J Physiol 2005, 565:731-741.
2. Davies N.P., Imbrici P., Fialho D., Herd C., Bilsland L.G., Weber A., et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology 2005, 65:1083-1089.
3. Fournier E., Arzel M., Sternberg D., Vicart S., Laforet P., Eymard B., et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004, 56:650-661.
4. Katz J.S., Wolfe G.I., Iannaccone S., Bryan W.W., Barohn R.J. The exercise test in Andersen syndrome. Arch Neurol 1999, 56:352-356.
5. McManis P.G., Lambert E.H., Daube J.R. The exercise test in periodic paralysis. Muscle Nerve 1986, 9:704-710.
6. Plaster N.M., Tawil R., Tristani-Firouzi M., Canun S., Bendahhou S., Tsunoda A., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001, 105:511-519.