PUBLICATIONS of MMG

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Résultats : 4196  publications trouvées.

postweaning and juvenile developmental stages. We found that knock-in mice displayed spontaneous seizures preferentially at postweaning rather than at juvenile stages. At the cellular level, .  et al. 0

the variant led to a reduction in M ​​current density/conductance and to neuronal hyperexcitability. These alterations were observed during the neonatal period in pyramidal cells of layers II/III and during the postweaning stage in pyramidal cells of layer V. Moreover

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Villard L, .  et al. 0

Orellana C

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N., .  et al. 0

J. P.; Recan

J. F.; Fontes
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MRX, .  et al. 0

XDP

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, .  et al. 0

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since a small learning effect was observed. It is concluded that, .  et al. 0

despite limited comprehension of the nature of the test

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Gecz J, .  et al. 0

Houdayer C

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Ulrike B. S., .  et al. 0

Silvia; Rubboli

Laurent; Afenjar
Stéphane; Miranda - issue: Marion; Perrin - volume: Laurence; Doummar - pages: Caroline; Schwarz.


epilepsy in 82%, .  et al. 0

intellectual disability in 77%

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Rio M, .  et al. 0

Doco-Fenzy M

Moutton S
- issue: Man HY. "Hum Mol Genet. 2013 Aug 15;22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24." Van Maldergem L Hum Mol Genet - volume: - pages: Villard L.


L. C., .  et al. 0

J.";Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome;American Journal of Medical Genetics;;0148-7299;;;;06/03/2000;07/03/2016 15:22;07/03/2016 15:22;;83-85;;1;91;;Am. J. Med. Genet.;;;;;;;;eng;;;;;PubMed;;PMID: 10751095

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Eve, .  et al. 0

John F.; Park

Laila; Van Coster
Katherine L.; Hardies - issue: Nicola; Ceulemans - volume: Berten; Dorn - pages: G. Christoph; Trivisano.


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F., .  et al. 0

R.; Lietti

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Epilepsia Open. 2025 Jul 9. doi: 10.1002/epi4.70087. Online ahead of print., .  et al. 0

Louis J

10.1002/epi4.70087
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A. M., .  et al. 0

L.; Cardoso

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Lennox-Gastaut not emerging from West syndrome (two patients), .  et al. 0

and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome

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