Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Aline Deligniere"'
Autor:
Emilie Bourel-Ponchel, Mahdi Mahmoudzadeh, Aline Delignières, Patrick Berquin, Fabrice Wallois
Publikováno v:
NeuroImage: Clinical, Vol 15, Iss , Pp 359-366 (2017)
Although infantile spasms can be caused by a variety of etiologies, the clinical features are stereotypical. The neuronal and vascular mechanisms that contribute to the emergence of infantile spasms are not well understood. We performed a multimodal
Externí odkaz:
https://doaj.org/article/f88985f6e5e2427e979bccd5e14f2882
Autor:
Maile R. Brown, Roberta Cilio, Matthew R. Fleming, Laurence Colleaux, Giulia Barcia, Aline Deligniere, Isabelle Desguerre, Leonard K. Kaczmarek, Nathalie Boddaert, Avinash Abhyankar, Maéva Langouët, Patrick Nitschké, Anna Kaminska, Valeswara-Rao Gazula, Rima Nabbout, Jean-Laurent Casanova, Jack Kronengold, Haijun Chen, Olivier Dulac, Arnold Munnich
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2012, 44 (11), pp.1255-1259. ⟨10.1038/ng.2441⟩
Nature Genetics, Nature Publishing Group, 2012, 44 (11), pp.1255-1259. ⟨10.1038/ng.2441⟩
Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. We performed exome sequencing in three probands with MMPSI and identified de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4224388a06e28414ce3e7cb430653ba0
https://hal.archives-ouvertes.fr/hal-02090149
https://hal.archives-ouvertes.fr/hal-02090149
