Severe Epilepsy in X-Linked Creatine Transporter Defect (CRTR-D)
Article first published online: 5 JUN 2007
Volume 48, Issue 6, pages 1211–1213, June 2007
How to Cite
Margherita Mancardi, M., Caruso, U., Cristina Schiaffino, M., Giuseppina Baglietto, M., Rossi, A., Maria Battaglia, F., Sophi Salomons, G., Jakobs, C., Zara, F., Veneselli, E. and Gaggero, R. (2007), Severe Epilepsy in X-Linked Creatine Transporter Defect (CRTR-D). Epilepsia, 48: 1211–1213. doi: 10.1111/j.1528-1167.2007.01148.x
- Issue published online: 5 JUN 2007
- Article first published online: 5 JUN 2007
- Accepted March 15, 2007.
- Creatine transporter deficiency;
- Severe epilepsy;
- X-linked mental retardation
Disorders of creatine synthesis or its transporter resulting in neurological impairment with mental retardation and epilepsy have only been recognized in recent years. To date, the epileptic disorder observed in creatine transporter deficiency (CRTR-D) has been described as a mild phenotype with infrequent seizures and favorable response to common antiepileptic drugs.
We report on a 5 year-old boy with known speech delay who presented with severe and refractory epilepsy. After extensive investigations, metabolite analysis and brain 1H-MRS suggested CRTR-D, which was confirmed by the detection of a known pathogenic mutation in the SLC6A8 gene (c.1631C>T; p.Pro544Leu).