Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

Brain

Volumn 139, Issue 3, 2016, Pages 674-691

  Zaharieva, Irina T ^a   Thor, Michael G ^b   Oates, Emily C ^c,d   Van Karnebeek, Clara ^e   Hendson, Glenda ^f   Blom, Eveline ^g   Witting, Nanna ^h   Rasmussen, Magnhild ⁱ   Gabbett, Michael T ^j   Ravenscroft, Gianina ^k   Sframeli, Maria ^a   Suetterlin, Karen ^b   Sarkozy, Anna ^a   D'Argenzio, Luigi ^a   Hartley, Louise ^l   Matthews, Emma ^b   Pitt, Matthew ^m   Vissing, John ^h   Ballegaard, Martin ^h   Krarup, Christian ^h   Slørdahl, Andreas ⁿ   Halvorsen, Hanne ^o   Ye, Xin Cynthia ^e   Zhang, Lin Hua ^e   Løkken, Nicoline ^h   Werlauff, Ulla ^p   Abdelsayed, Mena ^q   Davis, Mark R ^r   Feng, Lucy ^a   Phadke, Rahul ^a   Sewry, Caroline A ^a   Morgan, Jennifer E ^a,b   Laing, Nigel G ^k   Vallance, Hilary ^e   Ruben, Peter ^q   Hanna, Michael G ^b   Lewis, Suzanne ^e   Kamsteeg, Erik Jan ^s   Männikkö, Roope ^b   Muntoni, Francesco ^a,b   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d University of Sydney   (Australia)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f BC CHILDREN S HOSPITAL   (Canada)

^g MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF COPENHAGEN   (Denmark)

ⁱ OSLO UNIVERSITY HOSPITAL   (Norway)

^j GRIFFITH UNIVERSITY   (Australia)

^k UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^l UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^m GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁿ TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^o UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^p The Danish National Rehabilitation Center for Neuromuscular Diseases   (Denmark)

^q SIMON FRASER UNIVERSITY   (Canada)

^r PATHWEST LABORATORY MEDICINE   (Australia)

^s RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

Congenital myopathy; Foetal akinesia; Foetal hypokinesia; Loss of function mutation; SCN4A

Indexed keywords

SODIUM CHANNEL NAV1.4; SCN4A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MYOPATHY; DISEASE COURSE; DISEASE SEVERITY; DYSPHAGIA; ELECTROPHYSIOLOGICAL ASSAY; FACE DISORDER; FEAL HYPOKINESIA; FEMALE; FETUS; FETUS DEATH; HEAD AND NECK DISEASE; HEK293 CELL LINE; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOKINESIA; LOSS OF FUNCTION MUTATION; MALE; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NEWBORN; NEWBORN DEATH; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RESPIRATORY TRACT DISEASE; SCHOOL CHILD; SEQUENCE ANALYSIS; SPINE MALFORMATION; THIRD TRIMESTER PREGNANCY; WHOLE EXOME SEQUENCING; ANIMAL; GENETICS; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; SEVERITY OF ILLNESS INDEX; XENOPUS LAEVIS;

ADOLESCENT; ADULT; ANIMALS; CHILD; CHILD, PRESCHOOL; FEMALE; HEK293 CELLS; HUMANS; HYPOKINESIA; INFANT, NEWBORN; MALE; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NAV1.4 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; SEVERITY OF ILLNESS INDEX; XENOPUS LAEVIS;

EID: 84964680542     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv352     Document Type: Article

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