Axonal function in a family with episodic ataxia type 2 due to a novel mutation

Journal of Neurology

Volumn 255, Issue 5, 2008, Pages 750-755

  Krishnan, A V ^a,b   Bostock, H ^c   Ip, J ^d   Hayes, M ^d   Watson, S ^b   Kiernan, M C ^a,b  

^a NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^b PRINCE OF WALES HOSPITAL   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d Department of Microbiology and Infectious Diseases   (Australia)

Author keywords

Episodic ataxia; Nerve excitability; Potassiumchannel; Threshold electrotonus

Indexed keywords

VOLTAGE GATED CALCIUM CHANNEL;

ADULT; AGED; ARTICLE; ATAXIA; CASE REPORT; CHROMOSOME 19; CODON; CONTROLLED STUDY; EPISODIC ATAXIA TYPE 2; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NERVE EXCITABILITY; PRIORITY JOURNAL;

ADULT; AGED, 80 AND OVER; ATAXIA; AXONS; CALCIUM CHANNELS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ELECTRODIAGNOSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MASS SCREENING; MEDIAN NERVE; MEMBRANE POTENTIALS; MIDDLE AGED; MUTATION; NERVOUS SYSTEM; NEURAL CONDUCTION; PEDIGREE;

EID: 44449129860     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0794-x     Document Type: Article

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