MMG PUBLICATIONS

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Results: 4199  publications found.

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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10q25.2, .  et al. 0

and 8p23.1) in 3 patients born to consanguineous parents

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the sequential appearance of the in vivo deficits in this mouse line. The observed deficits initially concern major parameters (such as body weight), .  et al. 0

and are followed by involuntary and sensitive defects (reflexes). Subsequently

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J Neurosci Res. 2010 May 15, .  et al. 0

Roux JC

10.1002/jnr.22312
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Clarke A, .  et al. 0

Ben-Zeev B

Mari F
Bosnjak VM - issue: Djuric M - volume: Bisgaard AM - pages: Vignoli A.


Higgs DR., .  et al. 0

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, .  et al. 0

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, .  et al. 0

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, .  et al. 0

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