PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

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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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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A. M., .  et al. 0

A. A.; Whitehead

exhibited much less seasonal variation
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Popovici C, .  et al. 0

Missirian C

Badens C
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Epilepsia. 2025 Jun 18. doi: 10.1111/epi.18507. Online ahead of print., .  et al. 0

Adamo-Croux M

10.1111/epi.18507
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A. M., .  et al. 0

C.; Belougne

A.; Moraine
- issue: inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of t - volume: - pages: inv(X) (p11.1q13.1) and case 2 a paracentric inversion 46.

truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, .  et al. 0

characterized by slowing of fast inactivation

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Vinet MC, .  et al. 0

Jonveaux P

Tardieu M
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