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Article

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

Epilepsia - 1 Jun 2007

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

Abstract excerpt

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...

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PMID: 17553121
DOI: 10.1111/j.1528-1167.2007.01148.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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