title: A novel TSC2 mutation causing tuberless tuberous sclerosis.
authors.affiliation: Institute of Neurology, Unit of Neurophysiology and Sleep Medicine, Catholic University, Rome, Italy. Electronic address: nadia.giannantoni@gmail.com.
authors.forename: Nadia Mariagrazia
authors.initials: NM
authors.lastname: Giannantoni
authors.affiliation: Institute of Neurology, Unit of Neurophysiology and Sleep Medicine, Catholic University, Rome, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Restuccia
authors.affiliation: Institute of Neurology, Unit of Neurophysiology and Sleep Medicine, Catholic University, Rome, Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Della Marca
authors.affiliation: Unit of Human Pathology, Department of Health Science San Paolo Hospital, Milan, Italy.
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Alfano
authors.affiliation: Institute of Neurology, Unit of Neurophysiology and Sleep Medicine, Catholic University, Rome, Italy.
authors.forename: Catello
authors.initials: C
authors.lastname: Vollono
mesh_terms: D000328:Adult; D004569:Electroencephalography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins