Borges-Correia A, .  et al. 0

Saudou F

, .  et al. 0

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

a total of 20 different TCF4 gene mutations have been reported

, .  et al. 0

Villard L, .  et al. 0

Peyronnet-Roux J

Christelle, .  et al. 0

Catherine; Chantot-Bastaraud

Steven, .  et al. 0

Chantal; Borges

, .  et al. 0

Abada YS, .  et al. 0

Borloz E

then, .  et al. 0

for variants from a list of genes known to be associated with CA or very early-onset ataxia

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

and normal head growth. In addition, .  et al. 0

we constantly found an ongoing moderate to severe developmental delay with normal head growth. Patients often had ongoing ataxic gait with trembling gestures. Altogether these features should help the clinician to consider STXBP1 molecular screening.;2015-12;04/08/2025 08:04;04/08/2025 08:04;;1931-1940;;12;56;;Epilepsia;;;;;;;;eng;Wiley Periodicals

de Bellescize J, .  et al. 0

Chatron N

CACNA1A and CACNA2D2).", .  et al. 0

, .  et al. 0

, .  et al. 0

Campeau PM, .  et al. 0

Davidson C

Laurent, .  et al. 0

Jean-Christophe";Rett syndrome from bench to bedside: recent advances;F1000Research;;2046-1402;10.12688/f1000research.14056.1;;Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review

but only a tendency towards reduction. Finally, .  et al. 0

we did not found any apoptotic neurons in the pons indicating that LC neurons are not dying but are more likely loosing their catecholaminergic phenotype. In conclusion

MECP2, .  et al. 0

and ARID1B were the most common causes of ID. This study assessed the value of sequencing a cohort of probands to provide a molecular diagnosis of ID