title: Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Doccini
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy.
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Meschini
authors.affiliation: Pediatric Neurology and Neurogenetics Unit and Laboratories, Department of Neuroscience, Pharmacology and Child Health, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Mei
authors.affiliation: Pediatric Neurology and Neurogenetics Unit and Laboratories, Department of Neuroscience, Pharmacology and Child Health, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy. fsicca@fsm.unipi.it.|Clinical Neurophysiology Laboratory, IRCCS Fondazione Stella Maris, Calambrone-Pisa, Italy. fsicca@fsm.unipi.it.
authors.forename: Federico
authors.initials: F
authors.lastname: Sicca
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy. filippo3364@gmail.com.
authors.forename: Filippo Maria
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000154:Aconitate Hydratase / Q000378:metabolism; D000255:Adenosine Triphosphate / Q000378:metabolism*; D000293:Adolescent; D015820:Cadherins / Q000235:genetics; D002478:Cells, Cultured; D002648:Child; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D004579:Electron Transport / Q000502:physiology*; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism*; D028361:Mitochondrial Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D010865:Pilot Projects; D000091363:Protocadherins
chemical_list: D015820:Cadherins; D004272:DNA, Mitochondrial; D062550:NAV1.1 Voltage-Gated Sodium Channel; C438605:PCDH19 protein, human; D000091363:Protocadherins; C568242:SCN1A protein, human; D000255:Adenosine Triphosphate; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; D000154:Aconitate Hydratase