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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679
By:
- Bar, Claire;
- Kuchenbuch, Mathieu;
- Barcia, Giulia;
- Schneider, Amy;
- Jennesson, Mélanie;
- Le Guyader, Gwenaël;
- Lesca, Gaetan;
- Mignot, Cyril;
- Montomoli, Martino;
- Parrini, Elena;
- Isnard, Hervé;
- Rolland, Anne;
- Keren, Boris;
- Afenjar, Alexandra;
- Dorison, Nathalie;
- Sadleir, Lynette G.;
- Breuillard, Delphine;
- Levy, Raphael;
- Rio, Marlène;
- Dupont, Sophie
Publication type:
Article
Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome.
Published in:
2020
By:
- Bar, Claire;
- Pedespan, Jean‐Michel;
- Boccara, Olivia;
- Garcelon, Nicolas;
- Levy, Raphael;
- Grévent, David;
- Boddaert, Nathalie;
- Nabbout, Rima;
- Pedespan, Jean-Michel
Publication type:
journal article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
By:
- Bar, Claire;
- Barcia, Giulia;
- Jennesson, Mélanie;
- Le Guyader, Gwenaël;
- Schneider, Amy;
- Mignot, Cyril;
- Lesca, Gaetan;
- Breuillard, Delphine;
- Montomoli, Martino;
- Keren, Boris;
- Doummar, Diane;
- Billette de Villemeur, Thierry;
- Afenjar, Alexandra;
- Marey, Isabelle;
- Gerard, Marion;
- Isnard, Hervé;
- Poisson, Alice;
- Dupont, Sophie;
- Berquin, Patrick;
- Meyer, Pierre
Publication type:
Article
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1432272
By:
- Marin, Victor;
- Lebreton, Louis;
- Guibet, Claire;
- Mesli, Samir;
- Redonnet-Vernhet, Isabelle;
- Dexant, Mathurin;
- Lamireau, Delphine;
- Roche, Sandrine;
- Gaschignard, Margaux;
- Delmas, Jean;
- Margot, Henri;
- Bar, Claire
Publication type:
Article

Found: 4

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.