Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Autor: Le Roux, Marie, van Gils, Julien, Gueden, Sophie, de Cepoy, Patrick Desbordes, Aeby, Alec, Vilain, Catheline, Hirsch, Edouard, Martin, Anne de Saint, Des Portes, Vincent, Lesca, Gaetan, Riquet, Audrey, Chaton, Laurence, Villeneuve, Nathalie, Villard, Laurent, Cances, Claude, Valton, Luc, Renaldo, Florence, Vermersch, Anne-Isabelle, Altuzarra, Cecilia, Nguyen-Morel, Marie-Ange, Angelini, Chloé, Biraben, Arnaud, Arnaud, Lionel, Riant, Florence, van Bogaert, Patrick

Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩
European Journal of Paediatric Neurology, Elsevier, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩

International audience; The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of next-generation sequencing and whole-exo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d58209a1be3424905f7898d268d4df
https://hal-amu.archives-ouvertes.fr/hal-03148924/document

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