Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

Neurology

Volumn 87, Issue 14, 2016, Pages 1442-1448

  O'Grady, Gina L ^a   Verschuuren, Corien ^f   Yuen, Michaela ^a   Webster, Richard ^b   Menezes, Manoj ^b   Fock, Johanna M ^e,g   Pride, Natalie ^a   Best, Heather A ^a   Benavides Damm, Tatiana ^a   Turner, Christian ^c   Lek, Monkol ^d,h,i   Engel, Andrew G ^e,j   North, Kathryn N ^a,e,k   Clarke, Nigel F ^a,e   Macarthur, Daniel G ^h,i   Kamsteeg, Erik Jan ^e,l   Cooper, Sandra T ^a  

^a Australian Paediatric Surveillance Unit   (Australia)

^b Department of Neurology ^*  (Australia)

^c Heart Centre for Children   (Australia)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e University of Sydney   (Australia)

^f Departments of Genetics   (Australia)

^g UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^j MAYO CLINIC   (United States)

^k MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMIFAMPRIDINE; DISTIGMINE; EPHEDRINE; PYRIDOSTIGMINE; VESICULAR ACETYLCHOLINE TRANSPORTER; SLC18A3 PROTEIN, HUMAN;

ADOLESCENT; APNEA; ARTICLE; ATTENTION DISTURBANCE; CASE REPORT; CHILD; CHROMOSOME DELETION; COLD EXPOSURE; CONGENITAL MYASTHENIC SYNDROME; CONTRACTURE; CYANOSIS; DETERIORATION; DRUG DOSE INCREASE; DRUG MEGADOSE; EXERCISE TOLERANCE; EXHAUSTION; EXOME; FATIGUE; FEEDING; FEMALE; GENE SEQUENCE; GENETIC TRAIT; HEART LEFT VENTRICLE FAILURE; HEART LEFT VENTRICLE FUNCTION; HUMAN; ISOMETRIC EXERCISE; LEARNING DISORDER; LEFT VENTRICULAR SYSTOLIC DYSFUNCTION; MALE; MEMORY DISORDER; MUSCLE HYPOTONIA; MUSCLE ISOMETRIC CONTRACTION; NERVE STIMULATION; NYSTAGMUS; OPHTHALMOPLEGIA; PRESCHOOL CHILD; PRESYNAPTIC NERVE; PRIORITY JOURNAL; PSYCHOMETRY; PTOSIS; SIX MINUTE WALK TEST; TRANSTHORACIC ECHOCARDIOGRAPHY; VISUAL DISORDER; VISUAL MEMORY; WEAKNESS; WORKING MEMORY; DIFFERENTIAL DIAGNOSIS; GENETIC VARIATION; GENETICS; MYASTHENIC SYNDROMES, CONGENITAL; PATHOPHYSIOLOGY;

ADOLESCENT; CHILD; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC VARIATION; HUMANS; MALE; MYASTHENIC SYNDROMES, CONGENITAL; VESICULAR ACETYLCHOLINE TRANSPORT PROTEINS;

EID: 84989911666     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000003179     Document Type: Article

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