Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

Neurology

Volumn 85, Issue 22, 2015, Pages 1964-1971

  Whittaker, Roger G ^a   Herrmann, David N ^b   Bansagi, Boglarka ^a   Hasan, Bashar Awwad Shiekh ^a   Lofra, Robert Muni ^a   Logigian, Eric L ^b   Sowden, Janet E ^b   Almodovar, Jorge L ^c   Littleton, J Troy ^d   Zuchner, Stephan ^e   Horvath, Rita ^a   Lochmüller, Hanns ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^c DARTMOUTH MEDICAL SCHOOL   (United States)

^d MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; AMIFAMPRIDINE; PYRIDOSTIGMINE; SYNAPTOTAGMIN II; 3,4-DIAMINOPYRIDINE; FAMPRIDINE; POTASSIUM CHANNEL BLOCKING AGENT; SYT2 PROTEIN, HUMAN;

ACETYLCHOLINE RELEASE; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; DRUG EFFICACY; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGICAL PROCEDURES; ELECTROPHYSIOLOGY; FEMALE; FOOT MALFORMATION; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; LIMB WEAKNESS; MALE; MIDDLE AGED; MISSENSE MUTATION; MOTOR NEUROPATHY; MOTOR PERFORMANCE; MUSCLE ACTION POTENTIAL; MUSCLE STRENGTH; MUTATIONAL ANALYSIS; NERVE ENDING; NERVE STIMULATION; NEUROLOGIC EXAMINATION; NEUROMUSCULAR TRANSMISSION; PHYSICAL EXAMINATION; POST TETANIC POTENTIATION; PRIORITY JOURNAL; SCHOOL CHILD; SYT2 GENE; TREATMENT OUTCOME; YOUNG ADULT; ADOLESCENT; ANALOGS AND DERIVATIVES; DRUG EFFECTS; GENETICS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PATHOPHYSIOLOGY; PHYSIOLOGY; REFLEX; SYNAPTIC TRANSMISSION;

4-AMINOPYRIDINE; ADOLESCENT; ADULT; AGED; CHILD; ELECTROPHYSIOLOGICAL PHENOMENA; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; POTASSIUM CHANNEL BLOCKERS; PYRIDOSTIGMINE BROMIDE; REFLEX; SYNAPTIC TRANSMISSION; SYNAPTOTAGMIN II; YOUNG ADULT;

EID: 84949008966     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002185     Document Type: Article

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