Myopathy genes and SIDS

The ‘Back to Sleep’ campaign in the early 1990s dramatically reduced the incidence of sudden infant death syndrome (SIDS), but the problem has not gone away. There have always been familial clusters, some of which have led to parents being convicted of serial infanticide. In these legal cases the defence has been some genetic predisposition to SIDS, but this has been difficult to prove. A popular theory is that SIDS only occurs when three factors are present: a high-risk environment, a critical phase of development and a genetic vulnerability. It therefore seems reasonable to look for gene mutations that increase SIDS risk but cause no other ill-effects.

The molecular biology of skeletal muscle channelopathies has now been well-described. Mutations of the gene SCN4A can alter the sodium channel NaV1.4 and thus alter skeletal muscle excitability. These mutations are now known to cause a number of conditions such as myotonia...

from Archives of Disease in Childhood current issue https://ift.tt/2L63Vbg