title: Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy.
authors.forename: Gerarda
authors.initials: G
authors.lastname: Cappuccio
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Cozzolino
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Frisso
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Romanelli
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: D'Amico
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Carotenuto
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy. salvator@unina.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
authors.affiliation: From the Department of Translational Medicine, Section of Pediatrics (G.C., G.P., E.D.G.), the Department of Molecular Medicine and Medical Biotechnologies (G.F., R.R.), and the Diagnostic Imaging Department, Unit of Neuroradiology (A.D., B.C.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (C.C., G.F., R.R., F.S.), Naples; and IRCCS-Fondazione SDN (F.S.), Naples, Italy.
authors.forename: Ennio
authors.initials: E
authors.lastname: Del Giudice
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D004827:Epilepsy / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006712:Homocystinuria / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency* / Q000235:genetics*; D009128:Muscle Spasticity / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011618:Psychotic Disorders / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D012720:Severity of Illness Index
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)