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May 27, 2017
Çağan E, Kıray Baş E, Asker HS
BACKGROUND The emergence of infections related to multidrug-resistant Gram-negative bacilli (MDR-GNB) reintroduced the use of colistin, an antibiotic that was previously abandoned due to adverse effects. However, becau...
May 27, 2017
Naseer MI, Rasool M, Jan MM, Chaudhary AG, Pushparaj PN, Abuzenadah AM, Al-Qahtani MH
PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GP...
May 27, 2017
Borggraefe I, Catarino CB, Rémi J, Vollmar C, Peraud A, Winkler PA, Noachtar S
OBJECTIVE: The lateral and mesial aspects of the central and frontal cortex were studied by direct electrical stimulation of the cortex in epilepsy surgery candidates in order to determine the localization of unilatera...
May 27, 2017
Qian P, Li H, Xue J, Yang Z
OBJECTIVE: To investigate how high-frequency oscillations (HFOs) were affected by methylprednisolone treatment and the clinical significance of HFOs in patients with atypical benign partial epilepsy (ABPE). MET...
May 27, 2017
Janáčková S, Boyd S, Yozawitz E, Tsuchida T, Lamblin MD, Gueden S, Pressler R
OBJECTIVE: Although seizures are more common in the neonatal period than in any other stage of childhood, those in preterm neonates are still poorly described. The aim of this study was to assess electro-clinical chara...
May 27, 2017
Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T
BACKGROUND: Early-onset epileptic encephalopathy (EOEE) is a heterogeneous group of neurodevelopmental disorders characterised by infantile-onset intractable epilepsy and unfavourable developmental outcomes. Hundreds o...
May 27, 2017
Nonoda Y, Miyakoshi M, Ojeda A, Makeig S, Juhász C, Sood S, Asano E
OBJECTIVE: High-frequency oscillations (HFOs) can be spontaneously generated by seizure-onset and functionally-important areas. We determined if consideration of the spectral frequency bands of coupled slow-waves could...
May 27, 2017
van Diessen E, Otte WM, Stam CJ, Braun KP, Jansen FE
OBJECTIVE: It remains unclear to what extent brain networks are altered at an early stage of epilepsy, which may be important to improve our understanding on the course of network alterations and their association with...
May 27, 2017
Cen Z, Guo Y, Lou Y, Jiang B, Wang J, Feng J
May 27, 2017
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, Patrick DF, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individua...

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