Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

American Journal of Medical Genetics, Part A

Volumn 146, Issue 3, 2008, Pages 380-383

  Gay, Sébastien ^a   Dupuis, Delphine ^b   Faivre, Laurence ^b   Masurel Paulet, Alice ^b   Labenne, Marc ^a   Colombani, Marina ^b   Soichot, Pierre ^b   Huet, Frédéric ^b   Hainque, Bernard ^c   Sternberg, Damien ^c   Fontaine, Bertrand ^c   Gouyon, Jean Bernard ^a   Thauvin Robinet, Christel ^a,b  

^a Medical University of Dijon   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Muscle hypertrophy; Myotonia; Paramyotonia; SCN4A

Indexed keywords

CARBAMAZEPINE; MEXILETINE; VOLTAGE GATED SODIUM CHANNEL;

APNEA; ARTICLE; CASE REPORT; CONSTIPATION; DRUG DOSE INCREASE; ELECTROMYOGRAM; FACE DYSMORPHIA; FATALITY; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERKALEMIA; HYPOKALEMIC PERIODIC PARALYSIS; HYPOXIA; INFANT; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; MYOTONIA; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PSYCHOMOTOR RETARDATION; RESPIRATORY TRACT INFECTION; SCN4A GENE; SODIUM CHANNELOPATHY; THOMSEN DISEASE; UNCONSCIOUSNESS;

FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MYOTONIA CONGENITA; SODIUM CHANNELS;

EID: 38949093633     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32141     Document Type: Article

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