Schmitt
Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Neuropädiatrie, Abteilung » Prof. Dr. Eugen Boltshauser (emeritiert) » Schmitt
Completed research project
| Title / Titel | Seizures and non-epileptic, seizure-like symptoms in infants less than 2 years of age. | ||||||
|---|---|---|---|---|---|---|---|
| Abstract (PDF, 14 KB) | |||||||
| Summary / Zusammenfassung | Within the first two years of life many genetic, metabolic and neurodegenerative diseases manifest with seizures or seizure-like symptoms. Several new diseases are recently published. It is often difficult to distinguish seizures from harmful and harmless non-epileptic, seizure-like symptoms at this age. Our large clinical, EEG and video database enables us (i) to analyse the paroxysmal symptoms, (ii) to outline distinct pattern for specific diseases and (iii) to improve delineation between epileptic and non-epileptic symptoms. In the last years we place emphasis on the neonatal period. Recently we started to expand our retrospective analysis on infants with seizures and seizure-like symptoms up to the age of 2 years. It is our aim to diagnose the recently described diseases retrospectively in our cohort and to outline distinct pattern of paroxysmal movements for known and not-yet known diseases. |
||||||
| Publications / Publikationen | Mills, P.B., E.J. Footitt, K.A. Mills, K. Tuschl, S. Aylett, S. Varadkar, C. Hemingway, N. Marlow, J. Rennie, P. Baxter, O. Dulac, R. Nabbout, W.J. Craigen, B. Schmitt, F. Feillet, E. Christensen, P. De Lonlay, M.G. Pike, M.I. Hughes, E.A. Struys, C. Jakobs, S.M. Zuberi, and P.T. Clayton, Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain, 2010. 133(Pt 7): p. 2148-59.Schmitt B, Baumgartner M, Mills PB, Clayton PT, Jakobs C, Keller E, Wohlrab G: Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol 52:e133-42, 2010Bauder F, Wohlrab G, Schmitt B (2007) Neonatal seizures: eyes open or closed? Epilepsia 48:394-396Hoffmann, GF, Schmitt, B, Windfuhr, M, Wagner, N, Strehl, H, Bagci, S, Franz, AR, Mills, PB, Clayton, PT, Baumgartner, MR, Steinmann, B, Bast, T, Wolf, NI, Zschocke, J (2007) Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 30:96-99Becker K, Hohoff C, Schmitt B, Christen HJ, Neubauer BA, Sandrieser T, Becker CM (2006) Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients. Hum Mutat 27:1061-1062Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H (2006) Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. Biochem Biophys Res Commun 348:400-405Schmitt B, Wohlrab G, Sander T, Steinlein OK, Hajnal BL (2005) Neonatal seizures with tonic clonic sequences and poor developmental outcome. Epilepsy Res 65:161-168Wohlrab G, Uyanik G, Gross C, Hehr U, Winkler J, Schmitt B, Boltshauser E (2005) Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. Eur J Pediatr 164:326-32Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stockler-Ipsiroglu S (2005) Pipecolic Acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics 36:200-205 | ||||||
| Keywords / Suchbegriffe | neonate, seizures, epilepsy, hyperekplexia, infantile spasms, infants | ||||||
| Project leadership and contacts / Projektleitung und Kontakte |
|
||||||
| Funding source(s) / Unterstützt durch |
No project-specific funding |
||||||
| In collaboration with / In Zusammenarbeit mit |
|
||||||
| Duration of Project / Projektdauer | Jan 2005 to Dec 2009 |