A Metabolomic Study Leads to Detection of Novel Fabry Disease Biomarkers

seizures, generalized tonic-clonic seizures were most common (89.7%), followed by complex partial or absence seizures (64.7%). Other seizure types included atonic (14.7%), myoclonic (29.4%), and focal seizures (10.3%). Most subjects (57%) experienced only one seizure type. An average of 1.71 seizure management medications were used; valproate was the most commonly used anti-epileptic. On the UBDRS seizure sub-scale, mean seizure severity was 7.41 at the most recent evaluation. Mean clinical global impression (CGI) was 2.88 (0–5 scale), representing mild seizure severity. Seizure severity did not correlate with disease duration. Conclusion: Although myoclonic seizures do occur in JNCL, they are not the most common seizure type. Seizures in JNCL are most commonly generalized tonic-clonic in nature and are well managed with two or fewer anti-epileptic drugs. For most children, seizures are infrequent and are not progressive in nature.