Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches

The Lancet Child & Adolescent Health
Emma MatthewsM G Hanna

Abstract

Voltage-gated sodium channels are essential for excitability of skeletal muscle fibres and neurons. An increasing number of disabling or fatal paediatric neurological disorders linked to mutations of voltage-gated sodium channel genes are recognised. Muscle phenotypes include episodic paralysis, myotonia, neonatal hypotonia, respiratory compromise, laryngospasm or stridor, congenital myasthenia, and myopathy. Evidence suggests a possible link between sodium channel dysfunction and sudden infant death. Increasingly recognised phenotypes of brain sodium channelopathies include several epilepsy disorders and complex encephalopathies. Together, these early-onset muscle and brain phenotypes have a substantial morbidity and a considerable mortality. Important advances in understanding the pathophysiological mechanisms underlying these channelopathies have helped to identify effective targeted therapies. The availability of effective treatments underlines the importance of increasing clinical awareness and the need to achieve a precise genetic diagnosis. In this Review, we describe the expanded range of phenotypes of muscle and brain sodium channelopathies and the underlying knowledge regarding mechanisms of sodium channel dysfunction...Continue Reading

Citations

Jan 14, 2021·Journal of Biomedical Science·Po-Jui HsuChiou-Hwa Yuh
Feb 11, 2021·Practical Neurology·Emma MatthewsDoreen Fialho
Jun 19, 2021·Frontiers in Neurology·Federica Rachele DantiGiovanna Zorzi

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