Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

Autor: Marina Dusl, Thomas Klopstock, Silvia Belia, Manuela Wiessner, Peter Bauer, Jan Senderek, Claudia Stendel, Marta Cenciarini, Ehsan Nematian-Ardestani, Mauro Pessia, Maria Cristina D'Adamo

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 11
International journal of molecular sciences 21(11), 3810-(2020). doi:10.3390/ijms21113810
International Journal of Molecular Sciences, Vol 21, Iss 3810, p 3810 (2020)

Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia with typical onset in childhood or early adolescence. The disease is associated with mutations in the voltage-gated calcium channel alpha 1A subunit (Cav2.1) that is encode

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d0938c056a8dbf269380b5f52c91c5

AN OBSERVATIONAL STUDY ON THE IMPACT OF CLINICAL CONDITIONS ON CHILD BIRTH AND ITS MANAGEMENT

Autor: Kumar Raja Gunda, Vasudha Bakshi

Pregnancy, also known asgestation, is the time during which one or moreoffspringdevelops inside a woman. It is evident that a considerable proportion of these are affected by certain clinical conditions which may complicate pregnancy leading to mater

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452583ca42df9655f24f00321b3b7c75

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

Tailored surgery for drug-resistant epilepsy due to temporal pole encephalocele and microdysgenesis

Autor: Laura Licchetta, Barbara Mostacci, Fabio Calbucci, Matteo Martinoni, Agostino Baruzzi, Lorenzo Ferri, Gianluca Marucci, Francesca Bisulli, Lilia Volpi, Paolo Tinuper, Guido Rubboli, Marco Giulioni

Marco Giulioni *, Laura Licchetta , Francesca Bisulli , Guido Rubboli , Barbara Mostacci , Gianluca Marucci , Matteo Martinoni , Lorenzo Ferri , Lilia Volpi , Fabio Calbucci , Agostino Baruzzi , Paolo Tinuper b,c a IRCCS Istituto delle Scienze Neurol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e1e7f4eed8e218737ff20ef9ac67d1
http://hdl.handle.net/11585/399093

Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?

Autor: Aracelli Meyer-Osores, Kailash P. Bhatia, Christian Hagel, Alexander Münchau, Sibylle Hodecker, Saskia Biskup, Ludger Schöls, Christos Ganos, Stefanie Krüger

Publikováno v: Parkinsonism & related disorders 20(3), 328-331 (2014). doi:10.1016/j.parkreldis.2013.11.011

Background Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus. Methods Detailed c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d4b577d38d92471df7f402082b4bdf9
https://pubmed.ncbi.nlm.nih.gov/24359844