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

response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.", .  et al. 0

please email: journals.permissions@oup.com.;;;;;;Place: England PMID: 28379373

Coulter D, .  et al. 0

Klee EW

, .  et al. 0

half of the patients became seizure-free, .  et al. 0

5/16 could walk before the age of 3 and only 2/16 patient acquired the ability to speak. CONCLUSION: This study confirms that KCNQ2 is frequently mutated de novo in neonatal onset epileptic encephalopathy. We show here that despite a relatively stereotyped beginning of the condition

were significantly decreased to WT levels in Mecp2 KO mice after AAV9-MCO administration. Semi-quantitative analysis showed that AAV9-MCO administration in Mecp2 KO mice resulted in 10 to 20% Mecp2 immunopositive cells compared to WT animals, .  et al. 0

with the highest Mecp2 expression found in midbrain regions known to regulate cardio-respiratory functions. In addition

Clarke A, .  et al. 0

Ben-Zeev B

Charlotte Sophia, .  et al. 0

Jens; Riccardi

Adeline, .  et al. 0

Laurent; Roux

, .  et al. 0

Whalen S, .  et al. 0

Fredriksen T

Dominique P., .  et al. 0

Gwenaël; Puechberty

the sequential appearance of the in vivo deficits in this mouse line. The observed deficits initially concern major parameters (such as body weight), .  et al. 0

and are followed by involuntary and sensitive defects (reflexes). Subsequently

and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG syndrome. Among them, .  et al. 0

19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients

Myers SJ, .  et al. 0

Hongjie Y

the phenotype was clinically relevant with regard to the literature, .  et al. 0

which prompted to sequence the second allele

Angus, .  et al. 0

Bruria; Pineda

Inc., .  et al. 0

Huh L, .  et al. 0

Lesca G

, .  et al. 0