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

Eur J Hum Genet. 2002 Apr, .  et al. 0

Villard L

Saidi L, .  et al. 0

Villard L

microcephaly, .  et al. 0

and intellectual disability?;Ravel A

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Laurent, .  et al. 0

Patrick J.; Lutz

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

Eur J Hum Genet. 2002 Jan, .  et al. 0

Moncla A

Chavany J, .  et al. 0

Spiga Ghata A

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Gedeon A

Ori, .  et al. 0

Alessandra; Villard

myo-inositol, .  et al. 0

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

, .  et al. 0

, .  et al. 0

J Med Genet. 2002 Feb, .  et al. 0

Lossi AM

Villard L, .  et al. 0

Rodriguez D

Pecheux C, .  et al. 0

Villard L

severity of epilepsy, .  et al. 0

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

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