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

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Klee EW

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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

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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

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Hongjie Y

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

which prompted to sequence the second allele

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Bruria; Pineda

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