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Cathryn; Putoux

osmoregulation and neurotransmission in a mouse model of Rett syndrome. Combined with morphological and neurological findings, .  et al. 0

these results are crucial elements in providing mechanistic links between genotype and phenotype of Rett syndrome. Ultimately

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microcephaly, .  et al. 0

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forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), .  et al. 0

epilepsy (100%)

or XLF, .  et al. 0

in 2q35. The NHEJ1 gene was recently identified as being responsible for autosomal recessive immunodeficiency with microcephaly. Using quantitative PCR experiments

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Alessandra; Villard

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vs. wild-type mice; p = 0.034); (ii) reduced choline phospholipid turnover in Mecp2-null vs. wild-type mice

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severity of epilepsy, .  et al. 0

and type of seizures were collected. Statistical analysis was done using the IBM SPSS Version 21 software