title: Epilepsy spectrum in cerebral creatine transporter deficiency.
authors.forename: Carmen
authors.initials: C
authors.lastname: Fons
authors.forename: Angela
authors.initials: A
authors.lastname: Sempere
authors.forename: Francesc X
authors.initials: FX
authors.lastname: Sanmartí
authors.forename: Angela
authors.initials: A
authors.lastname: Arias
authors.forename: Pilar
authors.initials: P
authors.lastname: Póo
authors.forename: Mercedes
authors.initials: M
authors.lastname: Pineda
authors.forename: Antonia
authors.initials: A
authors.lastname: Ribes
authors.forename: Begoña
authors.initials: B
authors.lastname: Merinero
authors.forename: Maria A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D002675:Child, Preschool; D003401:Creatine / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000706:statistics & numerical data; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics
chemical_list: D026901:Membrane Transport Proteins; C080679:creatine transporter; D003401:Creatine