Difetto di trasporto della creatina ed epilessia: Descrizione di due casi e breve revisione della letteratura

Translated title of the contribution: Creatine transporter deficiency and epilepsy: Description of two cases and brief review of the literature

M. M. Mancardi, U. Caruso, M. G. Baglietto, M. C. Schiaffino, E. Bonioli, A. Rossi, R. Gaggero

Research output: Contribution to journalArticle

Abstract

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 contributionCreatine transporter deficiency and epilepsy: Description of two cases and brief review of the literature
Original languageItalian
Pages (from-to)275-277
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number133-134
Publication statusPublished - Jul 2006

ASJC Scopus subject areas

  • Clinical Neurology

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