Eur J Hum Genet. 2021 Sep, . et al. 0 Whalen S 10.1038/s41431-021-00821-0 - issue: - volume: - pages: .
Roux JC, . et al. 0 Franco P Cornu C - issue: Blin O - volume: Micallef J.;"Ann Clin Transl Neurol. 2017 Dec 27;5(2):118-127. doi: 10.1002/acn3.468. eCollection 2018 Feb.";Mancini J;Ann Clin Transl Neurol;2017;23/02/2018;PMC5817841;;10.1002/acn3.468 - pages: Attolini L.
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 - issue: - volume: - pages: .
Neurobiol Dis. 2021 Feb, . et al. 0 Matagne V 10.1016/j.nbd.2020.105235 - issue: - volume: - pages: .
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 - issue: - volume: - pages: .
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 - issue: - volume: - pages: .
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. - issue: - volume: - pages: .
Arch Pediatr. 2021 Jan, . et al. 0 André MV 10.1016/j.arcped.2020.10.015 - issue: - volume: - pages: .
Kirsten, . et al. 0 Bernt; Tamer Friederike K.; Hellenbroich Nathalie; Villard - issue: Hans-Hilger; von Spiczak - volume: Sarah; Tönnies - pages: Gudrun; Rauch.
compared to wild-type Kv7.2/Kv7.3. In neurons, . et al. 0 the p.A294V mutation induced a mislocalization of heteromeric mutant channels to the somato-dendritic compartment - issue: - volume: - pages: .
, . et al. 0 Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. - PubMed - NCBI - issue: - volume: - pages: .
PLoS Biol. 2020 Nov 13, . et al. 0 Verneuil J 10.1371/journal.pbio.3000738 - issue: - volume: - pages: .
we discovered a GRIN2A nonsense mutation in a three-generation family. In a girl with early-onset epileptic encephalopathy, . et al. 0 we identified the de novo GRIN2A mutation c.1845C>A predicting the amino acid substitution p.N615K. Analysis of NR1-NR2A(N615K) (NR2A subunit with the p.N615K alteration) receptor currents revealed a loss of the Mg²(+) block and a decrease in Ca²(+) permeability. Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors - issue: - volume: - pages: .