title: Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, CS, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Magariello
authors.affiliation: Regional Epilepsy Centre, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Russo
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, CS, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Citrigno
authors.affiliation: Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
authors.forename: S
authors.initials: S
authors.lastname: Züchner
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, CS, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Patitucci
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, CS, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Mazzei
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, CS, Italy.
authors.forename: F L
authors.initials: FL
authors.lastname: Conforti
authors.affiliation: Regional Epilepsy Centre, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Ferlazzo
authors.affiliation: Regional Epilepsy Centre, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy; Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
authors.forename: U
authors.initials: U
authors.lastname: Aguglia
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, CS, Italy. Electronic address: maria.muglia@cnr.it.
authors.forename: M
authors.initials: M
authors.lastname: Muglia
mesh_terms: D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D005192:Family Health; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D001523:Mental Disorders / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D006899:Mixed Function Oxygenases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000235:genetics*
chemical_list: D006899:Mixed Function Oxygenases; C019081:fatty acid alpha-hydroxylase
keywords: Exome sequencing; FA2H gene; Hereditary Spastic Paraplegia; SPG35