Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Early onset absence seizures"'
Autor:
Magalie Barth, Marie-Ange Nguyen-Morel, Marie Le Roux, Florence Renaldo, Nathalie Villeneuve, Florence Riant, Alec Aeby, Lionel Arnaud, Arnaud Biraben, Claude Cances, Catheline Vilain, Anne-Isabelle Vermersch, Patrick Van Bogaert, Edouard Hirsch, Chloé Angelini, Laurence Chaton, Gaetan Lesca, Julien Van Gils, Laurent Villard, Sophie Gueden, Patrick Desbordes de Cepoy, Vincent des Portes, Luc Valton, Cecilia Altuzarra, Audrey Riquet, Anne de Saint Martin
Publikováno v:
European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
European Journal of Paediatric Neurology, Elsevier, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
European Journal of Paediatric Neurology, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
European Journal of Paediatric Neurology, Elsevier, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
International audience; CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4496805228d3d29deb659a147f2ff8
https://pubmed.ncbi.nlm.nih.gov/34102571
https://pubmed.ncbi.nlm.nih.gov/34102571
Publikováno v:
Seizure. 48:57-61
Purpose Duplication of chromosome region 8q21-q22 is a rare copy number variant that has been previously reported in a limited number of patients. Although some of these patients had seizures, their electroclinical syndrome has not been described in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d76ed42c346de18408f8f4f2c2080d
https://doi.org/10.1016/j.seizure.2017.04.004
https://doi.org/10.1016/j.seizure.2017.04.004
Autor:
Renzo Guerrini, Thomas Sander, Samuel F. Berkovic, Sarah von Spiczak, Holger Tönnies, Simone Heidemann, Ulrich Stephani, Peter De Jonghe, Reiner Siebert, Yvonne G. Weber, Arvid Suls, Ingrid E. Scheffer, Ines Steinich, Michael Wittig, Hiltrud Muhle, Ingo Helbig, Carla Marini, Holger Lerche, Andre Franke
Publikováno v:
Epilepsia. 51:2453-2456
Early onset absence epilepsy (EOAE) starting before the age of 4 years constitutes a rare subgroup of the idiopathic generalized epilepsies (IGEs). A strong genetic component in IGE has been suggested by twin and family studies. We describe a boy wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4116470b02ae521cbdf28e1571688dee
https://doi.org/10.1111/j.1528-1167.2010.02712.x
https://doi.org/10.1111/j.1528-1167.2010.02712.x
Autor:
Roberto Caraballo, Eduardo Monese, Roberto Garcia, Francesca Darra, Elena Fontana, Bernardo Dalla Bernardina
Publikováno v:
Epilepsia.
Summary Purpose: Early onset absence seizures have been considered a rare heterogeneous group with a poor prognosis. Only few patients may be categorized into well-known syndromes. We have evaluated electroclinical features, evolution, and the nosolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b0806dfbb5979224ad51fb6f55c9ddf
https://doi.org/10.1111/j.1528-1167.2010.02926.x
https://doi.org/10.1111/j.1528-1167.2010.02926.x
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Akademický článek
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