title: Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.
authors.affiliation: MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL, Queen Square, London, UK.
authors.forename: E
authors.initials: E
authors.lastname: Matthews
authors.forename: A
authors.initials: A
authors.lastname: Guet
authors.forename: M
authors.initials: M
authors.lastname: Mayer
authors.forename: S
authors.initials: S
authors.lastname: Vicart
authors.forename: S
authors.initials: S
authors.lastname: Pemble
authors.forename: D
authors.initials: D
authors.lastname: Sternberg
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007532:Isoleucine / Q000235:genetics; D008297:Male; D009122:Muscle Hypertonia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009124:Muscle Proteins / Q000235:genetics*; D020125:Mutation, Missense; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D013912:Threonine / Q000235:genetics
chemical_list: D009124:Muscle Proteins; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D007532:Isoleucine; D013912:Threonine