Abstract
We aim to determine whether epilepsy can be considered part of the arginine:glycine amidinotransferase (AGAT) deficiency syndrome phenotype and to identify its associated electroclinical signatures. We reviewed clinical data from our center, identifying individuals with AGAT deficiency. Each individual underwent a dedicated epilepsy assessment with electroencephalography and 3-T brain magnetic resonance imaging (MRI). Additionally, 30 age- and sex-matched healthy controls (18 females, 28.2 ± 3.7 years old) were recruited for advanced MRI analysis. A family with four affected members carrying homozygous AGAT c.446>A:p.Trp149* ...
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