CUL4B, .  et al. 0

MECP2

, .  et al. 0

it appears that the location of the variant on the protein may be a marker of severity. Variant location may have important weight in the development of targeted therapeutics., .  et al. 0

and a recurrent one. So far, .  et al. 0

a total of 20 different TCF4 gene mutations have been reported

Hum Mutat. 2007 Apr, .  et al. 0

Cantagrel V

Cacciagli P, .  et al. 0

Lamoureux-Toth S

Al Aqeel AI, .  et al. 0

Alhashem A

Emmanuelle, .  et al. 0

Laurent; Rodriguez

Valérie, .  et al. 0

Adeline; Villard

Alma, .  et al. 0

Laurent; Goizet

P35 and P55). We focused on regions of the pons and the medulla oblongata directly involved in the regulation of autonomic functions. Our results show that the expression of MeCP2 is heterogeneously expressed throughout the postnatal mouse brainstem. MeCP2 expression in each area studied is restricted to neurones. The developmental pattern is mainly characterized by a postnatal decrease of the Mecp2 mRNA and an increase of the MeCP2 protein staining level in spite of the local variability. However, .  et al. 0

we were not able to correlate the developmental expression of MeCP2 in a given area of the brainstem with autonomic dysfunctions occurring in the presence of a mutation in Mecp2.;21/10/2008;04/08/2025 08:04;04/08/2025 08:04;;176-184;;;1236;;Brain Res;;;;;;;;eng;;;;;;;Place: Netherlands PMID: 18761004

Pediatr Neurol. 2006 May, .  et al. 0

Bienvenu T

Abidi A, .  et al. 0

Sutera-Sardo J

Abidi A, .  et al. 0

Cacciagli P

Pierre, .  et al. 0

Nadine; Milh

to a lesser extent, .  et al. 0

in the glutamate pathway. The implication of the GABA pathway in the RTT neuropathology was further confirmed using an in vivo treatment with a GABA reuptake inhibitor that significantly improved the lifespan of Mecp2-deficient mice. Our results confirm that RTT mouse present a deficit in the GABAergic pathway and suggest that GABAergic modulators could

epilepsy in 82%, .  et al. 0

intellectual disability in 77%

c.1265G>A (p.R422H), .  et al. 0

c.1264C>T (p.R422C)

Eur J Med Genet. 2006 Jan-Feb, .  et al. 0

Philippe C

Roux JC, .  et al. 0

Franco P