Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency

Autor: Christian Lavigne, Christoph Kessler, Matthias R. Baumgartner, Patricie Burda, François Feillet, Martina Huemer, Viktor Kožich, Mirian C. H. Janssen, Fanny Mochel, Rebecca Schüle, Pavel Ješina, Karolina M. Stepien, Adeline Regnier, Isabelle Redonnet-Vernhet, Jean-François Benoist, Cecilia Marelli

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.777-786. ⟨10.1002/jimd.12323⟩
Journal of Inherited Metabolic Disease, 44, 777-786
Journal of Inherited Metabolic Disease 44(3), 777-786 (2021). doi:10.1002/jimd.12323
Journal of Inherited Metabolic Disease, 44, 3, pp. 777-786

Item does not contain fulltext 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d46842247db613f3948216a26335491
https://doi.org/10.1002/jimd.12323

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Autor: Margaret O'Brien, Pierangelo Veggiotti, Silvia Masnada, Vinodh Narayanan, Hande Caglayan, Bruria Ben Zeev, Nicholas M. Allen, Kathleen M. Gorman, Eric D. Marsh, Simona Balestrini, Johannes R. Lemke, Ulrike B. S. Hedrich, Elena Gardella, Ralitza H. Gavrilova, Christian Korff, Judith Conroy, Ingo Helbig, Guido Rubboli, Fanny Dubois, Sérgio D.J. Pena, Dafne Dain Gandelman Horovitz, Thomas Bast, Eduardo Zaeyen, Beatriz G. Giráldez, Markus Wolff, Julian Schubert, Holger Lerche, Charu Kaiwar, Mutluay Arslan, Rikke S. Møller, Brenda E. Porter, Christina A.G. Bergqvist, Mary D. King, José M. Serratosa, Brendan C. Lanpher, Adrian Binelli, Eric W. Klee, Michal Tzadok, Keri Ramsey, Steffen Syrbe, Dragan Marjanovic, Sanjay M. Sisodiya, Matthis Synofzik

Publikováno v: Brain, Vol. 140, No 9 (2017) pp. 2337-2354
Masnada, S, Hedrich, U B S, Gardella, E, Schubert, J, Kaiwar, C, Klee, E W, Lanpher, B C, Gavrilova, R H, Synofzik, M, Bast, T, Gorman, K, King, M D, Allen, N M, Conroy, J, Ben Zeev, B, Tzadok, M, Korff, C, Dubois, F, Ramsey, K, Narayanan, V, Serratosa, J M, Giraldez, B G, Helbig, I, Marsh, E, O'Brien, M, Bergqvist, C A, Binelli, A, Porter, B, Zaeyen, E, Horovitz, D D, Wolff, M, Marjanovic, D, Caglayan, H S, Arslan, M, Pena, S D J, Sisodiya, S M, Balestrini, S, Syrbe, S, Veggiotti, P, Lemke, J R, Møller, R S, Lerche, H & Rubboli, G 2017, ' Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies ', Brain, vol. 140, no. 9, pp. 2337-2354 . https://doi.org/10.1093/brain/awx184
Brain 140(9), 2337-2354 (2017). doi:10.1093/brain/awx184

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b391aea93f7b703bf495332ce58677fe
https://pubmed.ncbi.nlm.nih.gov/29050392

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Autor: Nathalie Drouot, Jaeho Lee, Fabrice A.C. Klein, Mustafa A. Salih, Matthis Synofzik, Martial Mallaret, Cyril Mignot, Peter Bauer, Mathilde Renaud, Christine Tranchant, Michel Koenig, Cari A. Sagum, Rebecca Schüle, Jean-Louis Mandel, Mathieu Anheim, Rajech Sharkia, Muhammad Mahajnah, Mark T. Bedford, C. Marcelo Aldaz, Ludger Schöls

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (2), pp.411-419. ⟨10.1093/brain/awt338⟩
Brain 137(2), 411-419 (2013). doi:10.1093/brain/awt338

International audience; We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. We n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6c9cbfa753441cf696b353087fcde78
https://hal.umontpellier.fr/hal-02434727

Neurocysticercosis: Diagnostic problems & current therapeutic strategies

Autor: Vedantam Rajshekhar

Publikováno v: The Indian Journal of Medical Research
Indian Journal of Medical Research, Vol 144, Iss 3, Pp 319-326 (2016)

Neurocysticercosis (NCC) is the most common single cause of seizures/epilepsy in India and several other endemic countries throughout the world. It is also the most common parasitic disease of the brain caused by the cestode Taenia solium or pork tap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8d143a3c9ab3e86c4cb963abcb33fc8
https://doi.org/10.4103/0971-5916.198686

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

Autor: Burgunder, J-M, Finsterer, J., Schöls, L., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., Gasser, T., EFNS, Szolnoki, Z., Fontaine, B., Baets, J., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C.

Publikováno v: European journal of neurology 17(5), 641-648 (2010). doi:10.1111/j.1468-1331.2010.02985.x

These EFNS guidelines on the molecular diagnosis of channelopathies, including epilepsy and migraine, as well as stroke, and dementia are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnosti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5eea538c90943e2d37856828f32a2649
https://pub.dzne.de/record/136043