Severe epilepsy in X-linked creatine transporter defect (CRTR-D)

Epilepsia

Volumn 48, Issue 6, 2007, Pages 1211-1213

  Margherita Mancardi, Maria ^a   Caruso, Ubaldo ^a   Cristina Schiaffino, Maria ^a   Giuseppina Baglietto, Maria ^a   Rossi, Andrea ^a   Maria Battaglia, Francesca ^a   Sophi Salomons, Gajja ^b   Jakobs, Cornelis ^b   Zara, Federico ^a   Veneselli, Edvige ^a   Gaggero, Roberto ^a  

^a G GASLINI INSTITUTE   (Italy)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Creatine transporter deficiency; Severe epilepsy; X linked mental retardation

Indexed keywords

ETIRACETAM; PREDNISONE;

ARTICLE; CASE REPORT; EPILEPSY; GENE MUTATION; HUMAN; MALE; METABOLITE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH DISORDER; X CHROMOSOME LINKED DISORDER;

ANTICONVULSANTS; BRAIN; CHILD, PRESCHOOL; CREATINE; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENES, X-LINKED; HUMANS; ION TRANSPORT; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MEMBRANE TRANSPORT PROTEINS; MENTAL RETARDATION, X-LINKED; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; SEVERITY OF ILLNESS INDEX;

EID: 34249783450     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2007.01148.x     Document Type: Article

References (3)

1. Leuzzi V. (2002) Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis and treatment. Journal of Child Neurology 17 : 3S89 3S97.
2. Mancini GMS, Catsman-Berrevoets CEC, de Coo IFM, Aarsen FK, Kamphoven JHJ, Huijmans JG, Duran M, Van Der Knaap MS, Jakobs C, Salomons GS 2005) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. American Journal of Medical Genetics 132 (3 288 295.
3. Rosenberg EH. Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS. (2004) High Prevalence of SLC6A8Deficiency in X-Linked Mental Retardation. American Journal of Human Genetics 75 (1 97 105.