New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

Brain and Development

Volumn 37, Issue 9, 2015, Pages 891-893

  Fusco, Carlo ^a   Frattini, Daniele ^a   Salerno, Grazia Gabriella ^a   Canali, Elena ^a   Bernasconi, Pia ^b   Maggi, Lorenzo ^b  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Arthrogryposis; Congenital myotonia; Electromyography; SCN4A

Indexed keywords

ASPARAGINE; GLYCINE RECEPTOR; GLYCINE RECEPTOR SUBUNIT ALPHA 1; MEXILETINE; MYOTONIC DYSTROPHY PROTEIN KINASE; RAPSYN; RYANODINE RECEPTOR 1; SODIUM CHANNEL NAV1.4; TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; UNCLASSIFIED DRUG; SCN4A PROTEIN, HUMAN;

AREFLEXIA; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CLINODACTYLY; CLUBFOOT; COGNITIVE DEVELOPMENT; CONTRACTURE; ECHOCARDIOGRAPHY; ECHOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; ELECTRONYSTAGMOGRAPHY; EXERCISE; EXON; FACE DYSMORPHIA; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GESTATIONAL AGE; HETEROZYGOSITY; HIGH ARCHED PALATE; HIP DISLOCATION; HUMAN; HYDRAMNIOS; HYPOREFLEXIA; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE CONTRACTION; MUSCLE HYPERTROPHY; MUSCLE RIGIDITY; MYOTONIA; MYOTONIC DYSTROPHY; NASAL SPEECH; NERVE STIMULATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PALPEBRAL FISSURE; PALPEBRAL FISSURE ANOMALY; PERCUSSION; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; RECTUS ABDOMINIS MUSCLE; SEQUENCE ANALYSIS; SODIUM CHANNEL MYOTONIA; SODIUM CHANNELOPATHY; SUCKING; SWALLOWING; WECHSLER PRESCHOOL AND PRIMARY SCALE OF INTELLIGENCE; GENETICS; MUTATION; PATHOPHYSIOLOGY; SKELETAL MUSCLE; THOMSEN DISEASE;

CHILD, PRESCHOOL; FEMALE; HUMANS; MUSCLE, SKELETAL; MUTATION; MYOTONIA CONGENITA; NAV1.4 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE;

EID: 84940610380     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2015.02.004     Document Type: Article

References (7)

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