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: .
GABRG2): A cohort study, . et al. 0 review of literature Lépine A Lesca G - issue: Wardé MA - volume: Spitz MA - pages: Porter LF.
Caroline, . et al. 0 Manuela; Person Alessandra; Rieß Jenny C.; Telegrafi - issue: Myriam; Steindl - volume: Katharina; Syrbe - pages: Niklas; Smol.
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: .
seizures were more frequently observed and intractable, . et al. 0 and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intel - issue: - volume: - pages: .
Wood JC, . et al. 0 Sveden A Azzarello-Burri S Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F - issue: Charles P - volume: Cox H - pages: Carre W.
Masnada S, . et al. 0 Rubboli G Afenjar A Miranda MJ - issue: Perrin L - volume: Doummar D - pages: Schwarz N.
consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far, . et al. 0 biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia hypotonia - issue: - volume: - pages: .
Beate, . et al. 0 Aida I.; Alhashem Nathalie; Doummar Samira; Issa - issue: Kiely; Keren - volume: Boris; Kuechler - pages: Delphine; Horn.
Dicky J. J., . et al. 0 Tim; Villard coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of periventricular heterotopia. METHODS:... - issue: - volume: - pages: .
especially among IHPRF1-affected individuals, . et al. 0 and discuss differences between the IHPRF1- and IHPRF2 phenotypes. In summary - issue: - volume: - pages: .
Villard L, . et al. 0 Goizet C Tran Mau-Them F Abi-Warde MT - issue: Smol T - volume: El Chehadeh S - pages: Ghoumid J.
consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far, . et al. 0 biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia hypotonia - issue: - volume: - pages: .