Publications by authors named "Dean L Jones"
We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease expands and as more cases are identified. Here, we report the oldest known individual succumbing to NAXD-related neurometabolic crisis, at 32 years of age.
View Article and Find Full Text PDFA 20-year-old man presented with recurrent subdural haemorrhages on a background of progressive sensorineural hearing loss, juvenile idiopathic arthritis and intracranial hypertension of unknown cause. His mother had a similar previous history. They both had a persistently mildly elevated serum C reactive protein.
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- - The study examined the occurrence, causes, and effectiveness of genetic testing in infants with developmental and epileptic encephalopathies (DEEs) in Tasmania, focusing on those diagnosed between 2011 and 2016 who had experienced seizures before age 2 and other related symptoms.
- - Among the 16 identified cases, the incidence of infantile DEEs was found to be 0.44 per 1,000 infants per year, with structural causes in 5 cases and genetic factors in 6 cases, using gene panels and whole exome sequencing (WES).
- - The research highlights that a methodical approach combining clinical imaging and advanced genetic testing significantly improves diagnostic outcomes for infantile DEEs, which can aid in