and seizure types. We made genotypic/phenotypic correlation based on epilepsy-associated missense variant localization over the protein. RESULTS: We found 19 patients carrying a de novo mutation of SCN8A, .  et al. 0

representing 3% of our cohort

Villard L, .  et al. 0

Demidova IA

A. M., .  et al. 0

P.; Djabali

Christelle, .  et al. 0

Catherine; Chantot-Bastaraud

, .  et al. 0

Percy M, .  et al. 0

Allingham-Hawkins D

MRX, .  et al. 0

XDP

CACNA1A and CACNA2D2).", .  et al. 0

, .  et al. 0

, .  et al. 0

Ulrike B. S., .  et al. 0

Silvia; Rubboli

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

Ian R.", .  et al. 0

genetic differences among isolates of an AMF species could potentially have strong effects on the structure of plant communities. We tested the hypothesis that within species variation in the AMF Rhizophagus irregularis significantly affects plant community structure and plant co-existence. We took advantage of a recent genetic characterization of several isolates using double-digest restriction-site assoc

Lester T, .  et al. 0

Villard L

Ute, .  et al. 0

Eve; Mantovani

C., .  et al. 0

C.; Lépine

were used as either single inoculum or as mixed diversity inoculum. Plants in a mesocosm representing common species that naturally co-exist in European grasslands were inoculated with the different AMF treatments. We found that within-species differences in R. irregularis did not strongly influence the performance of individual plants or the structure of the overall plant community. However, .  et al. 0

the evenness of the plant community was affected by the phylogeny of the fungal isolates

the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes Tassone F, .  et al. 0

Villard L

Lennox-Gastaut not emerging from West syndrome (two patients), .  et al. 0

and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome

Nicolas, .  et al. 0

Yah-Se; Borloz