Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-006-0134-y.pdf
Reference11 articles.
1. Browne DL, Brunt ERP, Griggs RC, Nutt JG, Gancher ST, Smith EA, Litt M (1995) Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet 4:1671–1672
2. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JBP, Hanna MG, Kullmann DM, Spauschus A (2000) Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 48:647–656
3. Judge SI, Yeh JZ, Goolsby JE, Monteiro MJ, Bever CT Jr (2002) Determinants of 4–aminopyridine sensitivity in a human brain kv1. 4 K(+) channel: phenylalanine substitutions in leucine heptad repeat region stabilize channel closed state. Mol Pharmacol 61:913–920
4. Kinali M, Jungbluth H, Eunson LH, Sewry CA, Manzur AY, Mercuri E, Hanna MG, Muntoni F (2004) Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Neuromuscul Disord 14:689–693
5. Lee H, Wang H, Jen JC, Sabatti C, Baloh RW, Nelson SF (2004) A novel mutation in KCNA1 causes episodic ataxia without myokymia. Hum Mutat 24:536
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