Article
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
American journal of medical genetics. Part A - 1 Feb 2024
Abdennadher Myriam, Inati Sara K, Rahhal Samar, Khan Omar, Bartolini Luca, Thurm Audrey, Theodore William, Miller Judith S, Porter Forbes D, Bianconi Simona
Abstract excerpt
Seizures occur in up to 59% of boys with creatine transporter deficiency (CTD). While seizure phenotypes have been previously described, electroencephalogram (EEG) findings have only been reported in several case reports. In this prospective observational study, we report seizure characteristics and EEG findings in combination with neurobehavioral and SLC6A8 pathogenic variants in twenty males with CTD. Eighteen...
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