Isolated eyelid closure myotonia in two families with sodium channel myotonia

Neurogenetics

Volumn 11, Issue 2, 2010, Pages 257-260

  Stunnenberg, B C ^a   Ginjaar, H B ^b   Trip, J ^c   Faber, C G ^c   Van Engelen, B G ^a   Drost, G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Genotype phenotype correlation; Na v1.4; Non dystrophic myotonic syndromes; SCN4A; Sodium channelopathies

Indexed keywords

SODIUM CHANNEL NAV1.4; SCN4A PROTEIN, HUMAN; SODIUM CHANNEL;

ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL ASSESSMENT; ELECTROMYOGRAM; EYE MOVEMENT; EYELID; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ISOLATED EYELID CLOSURE MYOTONIA; MUSCLE CRAMP; MYOTONIA; ORBICULARIS OCULI MUSCLE; PRIORITY JOURNAL; SODIUM CHANNELOPATHY; AGED; CHANNELOPATHY; GENETICS; HISTOLOGY; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE;

ADULT; AGED; BASE SEQUENCE; CHANNELOPATHIES; DNA MUTATIONAL ANALYSIS; EYELIDS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOTONIA; PEDIGREE; SODIUM CHANNELS; YOUNG ADULT;

EID: 77949265191     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0225-x     Document Type: Article

References (9)

1. Vicart S, Sternberg D, Fontaine B et al (2005) Human skeletal muscle sodium channelopathies. Neurol Sci 26:194-202
2. Mankodi A, Thornton CA (2002) Myotonic syndromes. Curr Opin Neurol 15:545-552
3. Trip J, Drost G, Ginjaar I et al (2009) Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry 80:647-652
4. Trip J, Drost G, Verbove DJ et al (2008) In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet 16:921-929
5. Rossignol E, Mathieu J, Thiffault I et al (2007) A novel founder SCN4A mutation causes painful cold-induced myotonia in French- Canadians. Neurology 69:1937-1941
6. Gay S, Dupuis D, Faivre L et al (2008) Severe neonatal nondystrophic myotonia secondary to a novel mutation of the voltagegated sodium channel (SCN4A) gene. Am J Med Genet A 146:380-383
7. Caldwell JH (2000) Clustering of sodium channels at the neuromuscular junction. Microsc Res Tech 49:84-89
8. Happak W, Liu J, Burggasser G et al (1997) Human facial muscles: dimensions, motor endplate distribution, and presence of muscle fibers with multiple motor endplates. Anat Rec 249:276-284
9. Harper P, van Engelen B, Eymard B, Wilcox DE (2004) Myotonic dystrophy: present management, future therapy. Oxford University Press, New York