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

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 ...

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 ...

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 ...

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 study, published in Lancet Neurology, detailed the "head-to-head" trial implemented by the researchers to test two drugs, mexiletine and lamotrigine, on people with the condition. The trial ...

In findings made available on Tuesday (25 February), State Coroner Kamala Ponnampalam said that 32-year-old Pradip Subramaniam’s death had stemmed from cardiomegaly with cardiac channelopathy.

From there, word spread to other families over social media, news media, and the disease's advocacy foundation, KCNMA1 Channelopathy International Advocacy Foundation, which was co-founded by Dr ...