Pulmonary arterial hypertension is a devastating disease with high mortality. Familial cases of pulmonary arterial hypertension are usually characterized by autosomal dominant transmission with ...

Tyler, from Birmingham, suffers from channelopathy-related congenital insensitivity to pain, a rare condition that means his brain is unable to interpret pain. His mum Claire, 33, says she helps ...

The disorder – KCNMA1-linked channelopathy, named after the affected gene – is associated with involuntary collapsing episodes, in which patients slump over from loss of posture and muscle tone.

The disorder, KCNMA1-linked channelopathy, named after the affected gene, can cause abnormal, involuntary movements from collapsing episodes, in which patients slump forward with their arms and ...

A pediatric cardiologist familiar with Kimberly’s case said the condition, known as channelopathy, is not related to sports and is extremely uncommon. The cardiologist, who practices at Lucile ...

Thus far, this sperm channelopathy has remained undetectable. Scientists have unravelled CatSper's role in infertility using a novel laboratory test that identifies affected men. In half of the ...

Asymptomatic athlete with T-wave inversion with mild cardiac abnormalities (inconclusive of a cardiomyopathy or ion channelopathy) but no family history of hereditary cardiac disease: recommend ...

Thus far, this sperm channelopathy has remained undetectable. Scientists from Münster, Germany, have unravelled CatSper´s role in infertility using a novel laboratory test that identifies affected men ...