In 2001 Salomons et al identified a novel X-linked mental retardation syndrome, caused by a defect in the creatine transporter (CRT1) gene SCL6A8 mapped at Xq28 (1). Characteristics of this disorder include: depletion in the cerebral creatine pool (indicated by magnetic resonance spectrospy, MRS), increased creatine/creatinine ratio (Cr/Crn) in urine and variable association of metal retardation with marked impairment in language, epilepsy, autistic behaviour and growth retardation. We describe two patients with CRT1-deficiency followed at G. Gaslini Institute, with a brief rewiev of the literature.
|Translated title of the contribution||Creatine transporter deficiency and epilepsy: Description of two cases and brief review of the literature|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Jul 2006|
ASJC Scopus subject areas
- Clinical Neurology