Cacciagli P, .  et al. 0

Lamoureux-Toth S

increases striatal BDNF availability and synaptic connectivity in vivo, .  et al. 0

and improves the phenotype and the survival of Mecp2 knockout mice-even though treatments were initiated only after the mice had already developed symptoms. Stimulation of endogenous cellular pathways may thus be a promising approach for the treatment of RTT patients.;07/02/2020;23/06/2020 08:42;23/06/2020 08:42;;e10889;;2;12;;EMBO Mol Med;;;;;;;;eng;;;;;PubMed;;PMID: 31913581 PMCID: PMC7005633

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and can present with early-onset epileptic encephalopathy without brain iron accumulation., .  et al. 0

Clin Neurophysiol. 2021 Apr, .  et al. 0

Lo Barco T

Abidi A, .  et al. 0

Sutera-Sardo J

most biological parameters, .  et al. 0

including brain structure

Ana, .  et al. 0

Adeline; Villard

a depressed nasal bridge, .  et al. 0

hypertelorism

Eur J Hum Genet. 2021 Sep, .  et al. 0

Whalen S

Roux JC, .  et al. 0

Franco P

pharmacological interventions can be envisaged to try to counteract the deficits observed. Here, .  et al. 0

we review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available

, .  et al. 0

, .  et al. 0

Neurobiol Dis. 2021 Feb, .  et al. 0

Matagne V

Raynaud M, .  et al. 0

Bonnefond JP

and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were initially thought to be lethal in males. However, .  et al. 0

MECP2 mutations are now frequently identified in mentally retarded male patients. The frequency of disease-causing MECP2 mutations in this population is between 1.3% and 1.7%. Surprisingly

we found that chronic L-Dopa treatment improved the motor deficits previously identified. Altogether, .  et al. 0

our findings demonstrate that Mecp2-deficiency induces nigrostriatal deficits

was only 20% compared to wild-type. No measurable current was recorded in CHO cells expressing Kv7.2(A294V) channel alone. Although the total Kv7.2(A294V) expression was rescued to wild-type levels in cells co-expressing the Kv7.3 subunit, .  et al. 0

the global current density was still reduced by 83% compared to wild-type heteromeric channel. In a configuration mimicking the patients' heterozygous genotype i.e.

Arch Pediatr. 2021 Jan, .  et al. 0

André MV