and a recurrent one. So far, .  et al. 0

a total of 20 different TCF4 gene mutations have been reported

malformations of cortical development., .  et al. 0

without any brain structural abnormality. To be included in the cohort, .  et al. 0

patient's epilepsy should begin before three months of age and be associated with abnormal interictal EEG and neurological impairment. Brain MRI should not show any structural abnormality that could account for the epilepsy. RESULTS: Out of those 71 patients

Mol Cytogenet. 2015 Jun 16, .  et al. 0

Choucair N

Heredia R, .  et al. 0

H

Philip N, .  et al. 0

Menten B

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Chantal; Borges

Jean-Christophe", .  et al. 0

we have quantified the levels of expression of the Mecp2 mRNA by real time PCR and MeCP2 protein by immunoquantifications

the interictal background EEG was altered and displayed multifocal spikes or a suppression-burst pattern. The ongoing epilepsy and development were highly variable but overall severe: 15/16 had obvious cognitive impairment, .  et al. 0

half of the patients became seizure-free

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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

P35 and P55). We focused on regions of the pons and the medulla oblongata directly involved in the regulation of autonomic functions. Our results show that the expression of MeCP2 is heterogeneously expressed throughout the postnatal mouse brainstem. MeCP2 expression in each area studied is restricted to neurones. The developmental pattern is mainly characterized by a postnatal decrease of the Mecp2 mRNA and an increase of the MeCP2 protein staining level in spite of the local variability. However, .  et al. 0

we were not able to correlate the developmental expression of MeCP2 in a given area of the brainstem with autonomic dysfunctions occurring in the presence of a mutation in Mecp2.;21/10/2008;07/03/2016 15:17;23/06/2020 08:44;;176-184;;;1236;;Brain Res.;;;;;;;;eng;;;;;PubMed;;PMID: 18761004

indicated moderate-to-severe ID with autistic features, .  et al. 0

strabismus in all patients

Am J Med Genet A. 2015 Oct, .  et al. 0

Milh M

Masnada S, .  et al. 0

Rubboli G

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Catherine; Specchio