Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 10, 2013, Pages 1107-1112

  Tomlinson, Susan Elizabeth ^a,b,c,d   Rajakulendran, Sanjeev ^a,b   Tan, Stella Veronica ^a,b   Graves, Tracey Dawn ^a,b   Bamiou, Doris Eva ^a   Labrum, Robyn W ^a,b   Burke, David ^c   Sue, Carolyn M ^e   Giunti, Paola ^a,b   Schorge, Stephanie ^b   Kullmann, Dimitri M ^a,b   Hanna, Michael G ^a,b  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^d ST VINCENT S HOSPITAL   (Australia)

^e ROYAL NORTH SHORE HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOPYRIDINE; AMINOPYRIDINE DERIVATIVE; CARBAMAZEPINE; LENTIVIRUS VECTOR; PHENYTOIN; POTASSIUM CHANNEL KV1.1; SODIUM CHANNEL; SULTIAME;

AMINO TERMINAL SEQUENCE; ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DRUG EFFICACY; DRUG SAFETY; ELECTROPHYSIOLOGY; ENZYME SPECIFICITY; EPISODIC ATAXIA TYPE 1; EXPRESSION VECTOR; FUNCTIONAL ASSESSMENT; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; IN VITRO STUDY; KCNA1 GENE; MEMBRANE POTENTIAL; MEMBRANE STEADY POTENTIAL; NERVE CONDUCTION; NEUROPHYSIOLOGY; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RANVIER NODE; SITE DIRECTED MUTAGENESIS; VIRAL GENE DELIVERY SYSTEM;

EID: 84884587895     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-304131     Document Type: Article

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