Adélia Maria de Miranda Henriques‐Souza

Severe skeletal fragility in SCN8A ‐related developmental and epileptic encephalopathy

Abstract In this child with a phenotype compatible with the SCN8A gain‐of‐function spectrum, more than 20 bone fractures were documented. Together with previously reported cases, these observations raise the possibility that skeletal fragility may represent an underrecognized fea...