Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

Annals of Neurology

Volumn 77, Issue 5, 2015, Pages 840-850

  Arnold, W David ^a   Feldman, Daniel H ^b   Ramirez, Sandra ^b,c   He, Liuyuan ^b,d   Kassar, Darine ^a   Quick, Adam ^a   Klassen, Tara L ^e   Lara, Marian ^b   Nguyen, Joanna ^b   Kissel, John T ^a   Lossin, Christoph ^b   Maselli, Ricardo A ^b  

^a THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CALIFORNIA STATE UNIVERSITY   (United States)

^d DREXEL UNIVERSITY   (United States)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; ARGININE; CREATINE KINASE; HISTIDINE; LACTIC ACID; PYRIDOSTIGMINE; PYRUVIC ACID; SODIUM CHANNEL NAV1.4; THYROTROPIN; SCN4A PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; CREATINE KINASE BLOOD LEVEL; DEPOLARIZATION; DNA SEQUENCE; ELECTRIC FIELD; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; EXCITABILITY; EXERCISE TEST; FEMALE; HUMAN; HUMAN CELL; HYPERPOLARIZATION; MIDDLE AGED; MITOCHONDRIAL DNA REPLICATION; MUSCLE BIOPSY; MUSCLE CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TENDON REFLEX; WHOLE CELL PATCH CLAMP; WILD TYPE; AMINO ACID SEQUENCE; CHANNEL GATING; CONVALESCENCE; GENETICS; HEK293 CELL LINE; MOLECULAR GENETICS; MYASTHENIC SYNDROMES, CONGENITAL;

AMINO ACID SEQUENCE; FEMALE; HEK293 CELLS; HUMANS; ION CHANNEL GATING; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MYASTHENIC SYNDROMES, CONGENITAL; NAV1.4 VOLTAGE-GATED SODIUM CHANNEL; RECOVERY OF FUNCTION;

EID: 84928138708     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24389     Document Type: Article

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