A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression

European Journal of Medical Genetics

Volumn 57, Issue 5, 2014, Pages 207-211

  Bürk, Katrin ^a   Kaiser, Frank J ^b   Tennstedt, Stephanie ^b   Schöls, Ludger ^c,g   Kreuz, Friedmar R ^d   Wieland, Thomas ^e   Strom, Tim M ^e,h   Büttner, Thomas ^f   Hollstein, Ronja ^b   Braunholz, Diana ^b   Plaschke, Jens ^d   Gillessen Kaesbach, Gabriele ^b   Zühlke, Christine ^b  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d Center for Human Genetics   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f Hans Susemihl Hospital   (Germany)

^g GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

CACNA1A; EA2; FHM1; Ion channel gene defects; Molecule dynamic simulation; SCA6; Spinocerebellar ataxia

Indexed keywords

CACNA1A PROTEIN; EPISODIC ATAXIA TYPE 2; FAMILIAL HEMIPLEGIC MIGRAINE TYPE 1; PROTEIN; SPINOCEREBELLAR ATAXIA TYPE 6; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL;

ADULT; AGED; ARTICLE; DISEASE COURSE; EXON; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN FUNCTION; SPINOCEREBELLAR DEGENERATION; VERY ELDERLY; CEREBELLUM; CHEMICAL STRUCTURE; FEMALE; GENETIC ASSOCIATION; GENETICS; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN TERTIARY STRUCTURE;

ADULT; AGED; AGED, 80 AND OVER; CALCIUM CHANNELS; CEREBELLUM; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; SPINOCEREBELLAR ATAXIAS;

EID: 84899643236     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.01.005     Document Type: Article

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