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

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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epilepsy gene panel

Fontes M. "Mamm Genome. 1995 Sep, .  et al. 0

response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.", .  et al. 0

most biological parameters, .  et al. 0

including brain structure

and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. CONCLUSION: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome., .  et al. 0

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Jordan C.; Sveden

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

GABRG2): A cohort study, .  et al. 0

review of literature

Caroline, .  et al. 0

Manuela; Person

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

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

Wood JC, .  et al. 0

Sveden A

hypotonia, .  et al. 0

functional gastrointestinal abnormalities

, .  et al. 0

, .  et al. 0

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Rubboli G