Sodium channelopathy of peripheral nerve: tightening the genotype-phenotype relationship

Sodium channelopathy of peripheral nerve: tightening the genotype-phenotype relationship.

Among proteins involved in neurological disease ion channels are amenable to the most detailed characterisation: patch-clamp methods allow the opening and closing of individual channels to be documented at millisecond resolution in response to precisely delivered stimuli (whether electrical or pharmacological). In theory, therefore, inherited disorders of ion channels should be ideal candidates...

SCIENTIFIC COMMENTARY Sodium channelopathy of peripheral nerve: tightening the genotype–phenotype relationship

Among proteins involved in neurological disease, ion channels are amenable to the most detailed characterization: patch clamp methods allow the opening and closing of individual channels to be documented at millisecond resolution in response to precisely delivered stimuli (whether electrical or pharmacological). In theory, therefore, inherited disorders of ion channels should be ideal candidate...

Genotype – phenotype relationship in Hereditary Hemorrhagic Telangiectasia

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by vascular malformations in multiple organ systems, resulting in mucocutaneous telangiectases and arteriovenous malformations predominantly in the lungs (pulmonary arteriovenous malformation; PAVM), brain (cerebral arteriovenous malformation; CAVM), and liver (hepatic arteriovenous malformation; HAVM)....

Chromosome Duplication (14q) and The Genotype Phenotype Correlation