Clinical Variability of GLUT1DS

Autor: Anastasia Martinez-Esteve Melnikova, Christian M Korff

Publikováno v: Pediatric Neurology Briefs, Vol 29, Iss 2 (2015)

Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with spo

Externí odkaz: https://doaj.org/article/e96e3bf147b04df0910c34144f56493b

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R

Autor: Yonika A. Larasati, Gonzalo P. Solis, Alexey Koval, Silja T. Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M. Korff, Vladimir L. Katanaev

Publikováno v: Cells, Vol 12, Iss 20, p 2469 (2023)

De novo mutations in GNAO1, the gene encoding the major neuronal G protein Gαo, cause a spectrum of pediatric encephalopathies with seizures, motor dysfunction, and developmental delay. Of the >80 distinct missense pathogenic variants, many appear t

Externí odkaz: https://doaj.org/article/340e7995a0fb4dbcb49206d3c3eb6a16

Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency:A cohort study

Autor: Allan Bayat, Angel Aledo‐Serrano, Antonio Gil‐Nagel, Christian M. Korff, Ashley Thomas, Christian Boßelmann, Yvonne Weber, Elena Gardella, Allan M Lund, Monique G. M. de Sain‐van der Velden, Rikke S Møller

Publikováno v: Bayat, A, Aledo-Serrano, A, Gil-Nagel, A, Korff, C M, Thomas, A, Boßelmann, C, Weber, Y, Gardella, E, Lund, AM, de Sain-van der Velden, M G M & Møller, R S 2022, ' Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency : A cohort study ', Developmental Medicine and Child Neurology, vol. 64, no. 6, pp. 789-798 . https://doi.org/10.1111/dmcn.15142

Aim: To investigate the short-term efficacy and safety of high-dose pyridoxine and pyridoxal 5-phosphate (P5P) in the treatment of inherited glycosylphosphatidylinositol (GPI) deficiency-associated epilepsy. Method: Participants with genetically conf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f1d9b4836244e67cb44cc0f0bf6661
https://portal.findresearcher.sdu.dk/da/publications/36980c4b-93a9-4520-bd80-320700276d80

Dravet Syndrome: an update

Autor: Christian M. Korff, Vanessa S. van Dam

Publikováno v: Schweizer Archiv für Neurologie und Psychiatrie. 164:153-157

Summary Dravet syndrome is a severe epilepsy syndrome of infancy characterised by seizures of multiple types, often prolonged and particularly fever-sensitive, with onset in the first year of life, and subsequent developmental delay. This article aim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4ac2e6bb8f4ded5998b100d5df11c83d
https://doi.org/10.4414/sanp.2013.00174

Do generalized tonic-clonic seizures in infancy exist?

Autor: Douglas R. Nordli, Christian M. Korff

Publikováno v: Neurology. 65:1750-1753

Objective: To determine the frequency of generalized tonic-clonic seizures (GTCS) in infants (1 month to 2 years). Methods: From a total of 2,112 patients monitored in our video-EEG lab from May 2000 through January 2005, 109 distinct seizures in 77

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe01d0ec1ada549ad98ce55c28f2068
https://doi.org/10.1212/01.wnl.0000187125.87414.f3