Dichlorphenamide efficacy in the primary periodic paralyses

Matthews, Emma; Hanna, Michael G.

doi:10.1080/21678707.2017.1283216

Cited by 1 publication

(1 citation statement)

References 40 publications

(43 reference statements)

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“…This limits the ability to inform best practice and suggests more innovative trial design may be needed for the future 103 . In addition many of the treatments used are repurposed relatively inexpensive drugs but if trial evidence of efficacy in a rare disease is provided this can leave them vulnerable to unintended disadvantages of orphan drug designationnamely significant price increases which in some cases has led to a lack of access for patients 104 .…”

Section: Future Challengesmentioning

confidence: 99%

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

Matthews

Balestrini

Sisodiya

et al. 2020

The Lancet Child & Adolescent Health

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Voltage gated sodium channels are essential for excitability of skeletal muscle fibres and neurones. 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/stridor, congenital myasthenia and myopathy. Recent evidence suggests a possible link between sodium channel dysfunction and sudden infant death. Increasingly recognised brain sodium channelopathy phenotypes include several epilepsy disorders and complex encephalopathies. Together these early onset muscle and brain phenotypes have a significant morbidity and an appreciable mortality rate but there have been significant advances in understanding the pathophysiological mechanisms underlying them and these 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. Here, we describe the expanded range of phenotypes of muscle and brain sodium channelopathies and the underlying knowledge regarding mechanisms of sodium channel dysfunction. We outline a diagnostic approach and review the available treatment options.

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Section: Future Challengesmentioning

confidence: 99%