Publications

Found 8 results
Filters: Keyword is Epilepsy  [Clear All Filters]
2015
Coughlin CR, Scharer GH, Friederich MW, Yu H-C, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Van Coster R, Powell CA, Swanson MA, Minczuk M, Van Hove JLK & Shaikh TH (2015) Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet 52, 532-40
2010
Burgunder J-M, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Schöls L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF & Gasser T (2010) EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. Eur J Neurol 17, 641-8
Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M & Bindoff LA (2010) Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 133, 1428-37
2009
Cesaroni E, Scarpelli M, Zamponi N, Polonara G & Zeviani M (2009) Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. Pediatr Neurol 41, 131-4
2005
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G & Bindoff LA (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64, 1204-8
2001
Gasser T, Dichgans M, Finsterer J, Hausmanowa-Petrusewicz I, Jurkat-Rott K, Klopstock T, Leguern E, Lehesjoki AE, Lehmann-Horn F, Lynch T, Morris H, Rossor M, Steinlein OK, Wood N, Zaremba J, Zeviani M & Zoharn A (2001) EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. Eur J Neurol 8, 407-24
Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M & Avanzini G (2001) Epileptic phenotypes associated with mitochondrial disorders. Neurology 56, 1340-6
1988
Montagna P, Gallassi R, Medori R, Govoni E, Zeviani M, Di Mauro S, Lugaresi E & Andermann F (1988) MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 38, 751-4