Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy

Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

(2015) W. David Arnold et al.   ANNALS OF NEUROLOGY

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

(2015) Gianina Ravenscroft et al.   BRAIN

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

(2014) Silvia Corrochano et al.   BRAIN

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

(2014) James R. Groome et al.   BRAIN

Muscle channelopathies

(2014) Karen Suetterlin et al.   CURRENT OPINION IN NEUROLOGY

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fetal akinesia: review of the genetics of the neuromuscular causes

(2011) G. Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy

(2010) Sang-Chan Lee et al.   Journal of Clinical Neurology

Congenital myopathies

(2008) Caroline A Sewry et al.   CURRENT OPINION IN NEUROLOGY

NEONATAL HYPOTONIA CAN BE A SODIUM CHANNELOPATHY: RECOGNITION OF A NEW PHENOTYPE

(2008) E. Matthews et al.   NEUROLOGY