Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

Autor: Baulac, Stéphanie, Ishida, Saeko, Marsan, Elise, Miquel, Catherine, Biraben, Arnaud, Nguyen, Dang Khoa, Nordli, Doug, Cossette, Patrick, Nguyen The Tich, Sylvie, Lambrecq, Virginie, Vlaicu, Mihaela, Daniau, Maïlys, Bielle, Franck, Andermann, Eva, Andermann, Frederick, Leguern, Eric, Chassoux, Francine, Picard, Fabienne

Publikováno v: Annals of Neurology
Annals of Neurology, Wiley, 2015, 77 (4), pp.675-683. ⟨10.1002/ana.24368⟩
Annals of Neurology, Wiley, 2015, 77, pp.675-683. 〈10.1002/ana.24368〉
Annals of Neurology, 2015, 77 (4), pp.675-683. ⟨10.1002/ana.24368⟩
Annals of Neurology, Vol. 77, No 4 (2015) pp. 675-683

Objective: The DEPDC5 (DEP domain-containing protein 5) gene, encoding a repressor of the mTORC1 signaling pathway, has recently emerged as a major gene mutated in familial focal epilepsies. We aimed to further extend the role of DEPDC5 to focal cort

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::82b9961780435ea6eab4e7d235490789
https://pubmed.ncbi.nlm.nih.gov/25623524

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Proposed Criteria for Referral and Evaluation of Children for Epilepsy Surgery: Recommendations of the Subcommission for Pediatric Epilepsy Surgery.

Autor: Cross, J. Helen, Jayakar, Prasanna, Nordli, Doug, Delalande, Olivier, Duchowny, Michael, Wieser, Heinz G., Guerrini, Renzo, Mathern, Gary W.

Publikováno v: Epilepsia (Series 4); Jun2006, Vol. 47 Issue 6, p952-959, 8p, 3 Charts

Fetomaternal hemorrhage as an etiology of neonatal stroke

Autor: Boyce, Leslie H., Khandji, Alex G., DeKlerk, Alan M., Nordli, Doug R.

Publikováno v: In Pediatric Neurology 1994 11(3):255-257