title: Severe epilepsy in X-linked creatine transporter defect (CRTR-D).
abstract: 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).
authors.affiliation: Department of Child Neuropsychiatry, Epilepsy Unit, G. Gaslini Institute, Genoa, Italy.
authors.forename: Maria Margherita
authors.initials: MM
authors.lastname: Mancardi
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Caruso
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Schiaffino
authors.forename: Maria Giuseppina
authors.initials: MG
authors.lastname: Baglietto
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Francesca Maria
authors.initials: FM
authors.lastname: Battaglia
authors.forename: Gajja Sophi
authors.initials: GS
authors.lastname: Salomons
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Edvige
authors.initials: E
authors.lastname: Veneselli
authors.forename: Roberto
authors.initials: R
authors.lastname: Gaggero
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000378:metabolism; D002675:Child, Preschool; D003401:Creatine / Q000235:genetics; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D017136:Ion Transport / Q000235:genetics; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D000927:Anticonvulsants; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; C080679:creatine transporter; D003401:Creatine