Eric D. Goldstein, Rocco Cannistraro, Stephen English, Rocio Vazquez Do Campo, Benjamin Eidelman October 26, 2017

Limb-shaking transient ischemic attacks (LSTIAs) are a phenomenon that occurs due to transient hypoperfusion to a cerebral motor territory with a chronically outstripped autoregulatory vascular reserve. First described in 1962 by Miller Fisher, the pathogenesis and the global understanding of this presentation have undergone a significant advancement throughout the years.… Read More...

Nathalie Goemans, Eugenio Mercuri, Elena Belousova, Hirofumi Komaki, Alberto Dubrovsky, Craig M. McDonald, John E. Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X. Wang, Craig Campbell, for the DEMAND III study group October 26, 2017

• 48-week phase 3 RCT evaluating efficacy and safety of drisapersen 6 mg/kg/week• The pre-specified analyses did not meet statistical significance• Due to increased data variation, statistical power for 6MWD was reduced from to 53%• Evidence for a greater treatment benefit was seen in a selected population post-hoc• Most common adverse events were injection-site reactions and subclinical proteinuria

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Jérôme Devaux, Sandra Dhifallah, Michela De Maria, Geoffrey Stuart-Lopez, Hélène Becq, Mathieu Milh, Florence Molinari, Laurent Aniksztejn October 25, 2017

Summary

Objective

Kv7 channels mediate the voltage-gated M-type potassium current. Reduction of M current due to KCNQ2 mutations causes early onset epileptic encephalopathies (EOEEs). Mutations in STXBP1 encoding the syntaxin binding protein 1 can produce a phenotype similar to that of KCNQ2 mutations, suggesting a possible link between STXBP1 and Kv7 channels.

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