PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

Cacciagli P, .  et al. 0

Mortreux J

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, .  et al. 0

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, .  et al. 0

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this study, .  et al. 0

through secretomic analysis

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a missense and two splice-site mutations. In another cohort of 127 individuals with idiopathic epilepsy and/or mental retardation, .  et al. 0

we discovered a GRIN2A nonsense mutation in a three-generation family. In a girl with early-onset epileptic encephalopathy

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Nat Genet. 2010 Nov, .  et al. 0

Endele S

10.1038/ng.677
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Dalle C, .  et al. 0

Rastetter A

Nava C
Tran Mau-Them F - issue: Vanhoutte EK - volume: Verdonschot JAJ - pages: Villard L.


Fontes M, .  et al. 0

Villard L

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Pierre, .  et al. 0

Affef; Sutera-Sardo

Anne Dieux; Dailland
- issue: they are affected by early onset epilepsy but their subsequent neurological development is usually normal. Mutations causing BFNE are often inherited from affected parents. Early infantile epileptic encephalopathy type 7 (EIEE7) is at the other end of - volume: although EIEE7 patients have earl - pages: encoding a potassium channel subunit.


Yann, .  et al. 0

Lydia; Villard

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, .  et al. 0

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Behav Brain Res. 2011 Jan 1, .  et al. 0

Pratte M

10.1016/j.bbr.2010.08.011
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, .  et al. 0

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Mancini J, .  et al. 0

Villard L.;"Eur J Neurosci. 2007 Apr;25(7):1915-22. doi: 10.1111/j.1460-9568.2007.05466.x.";Roux JC;Eur J Neurosci;2007;19/04/2007;;;10.1111/j.1460-9568.2007.05466.x

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and found that these individuals were mosaic for the KCNQ2 mutation. These findings have important consequences for genetic counseling and indicate that neurological development can be normal in the presence of somatic mosaicism for a KCNQ2 mutation., .  et al. 0

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which resulted in some severe, .  et al. 0

sometimes lethal

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A., .  et al. 0

O.; Villard

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Eur J Hum Genet. 2010 Dec, .  et al. 0

Cacciagli P

10.1038/ejhg.2010.126
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Coulter D, .  et al. 0

Klee EW

Villard L
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Gérard A, .  et al. 0

Carlier M

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