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Aug 19, 2016
DeGiorgio CM, Taha A
INTRODUCTION: There is growing interest in alternative and nutritional therapies for drug resistant epilepsy. ῳ-3 fatty acids as fish or krill oil are widely available supplements used to lower triglycerides and enhanc...
Aug 17, 2016
Müller A, Helbig I, Jansen C, Bast T, Guerrini R, Jähn J, Muhle H, Auvin S, Korenke GC, Philip S, Keimer R, Striano P, Wolf NI, Püst B, Thiels Ch, Fogarasi A, Waltz S, Kurlemann G, Kovacevic-Preradovic T, Ceulemans B, Schmitt B, Philippi H, Tarquinio D, Buerki S, von Stülpnagel C, Kluger G
OBJECTIVE: Mutations in the CDKL5 gene cause an early-onset epileptic encephalopathy. To date, little is known about effective antiepileptic treatment in this disorder. METHOD: Accordingly, the aim of this retr...
Aug 17, 2016
Murray AJ, Knight NS, Cole MA, Cochlin LE, Carter E, Tchabanenko K, Pichulik T, Gulston MK, Atherton HJ, Schroeder MA, Deacon RM, Kashiwaya Y, King MT, Pawlosky R, Rawlins JN, Tyler DJ, Griffin JL, Robertson J, Veech RL, Clarke K
Ketone bodies are the most energy-efficient fuel and yield more ATP per mole of substrate than pyruvate and increase the free energy released from ATP hydrolysis. Elevation of circulating ketones via high-fat, low-carb...
Aug 17, 2016
Simeone TA, Matthews SA, Samson KK, Simeone KA
The ketogenic diet (KD) is an effective therapy primarily used in pediatric patients whom are refractory to current anti-seizure medications. The mechanism of the KD is not completely understood, but is thought to invo...
Aug 16, 2016
van der Louw EJ, Desadien R, Vehmeijer FO, van der Sijs H, Catsman-Berrevoets CE, Neuteboom RF
PURPOSE: Anti-epileptic drugs (AEDs) and the ketogenic diet (KD) are often used concomitantly in children with refractory epilepsy. It has been hypothesised that certain AEDs may interfere with KD. The purpose of this ...
Aug 16, 2016
Akman CI, Yu J, Alter A, Engelstad K, De Vivo DC
OBJECTIVE: To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. STUDY DESIGN: We retrospectively reviewed 133 pa...
Aug 10, 2016
Appavu B, Guido-Estrada N, Lindstrom K, Grebe T, Kerrigan JF, Troester M
TBC1D24 is a newly recognized gene in which variations lead to variable clinical phenotypes including drug-resistant epilepsy. We report four patients with novel variants of TBC1D24 demonstrating drug-resistant focal e...
Aug 4, 2016
Pascual JM, Ronen GM
BACKGROUND: As is often the case for rare diseases, the number of published reviews and case reports of glucose transporter type I deficiency (G1D) approaches or exceeds that of original research. This can indicate med...
Aug 4, 2016
Casciato S, Morano A, Albini M, Fanella M, Lapenta L, Fattouch J, Carnì M, Colonnese C, Manfredi M, Giallonardo AT, Di Bonaventura C
PURPOSE: Celiac disease (CD) is an immuno-mediated small bowel disease characterized by chronic inflammation due to a permanent intolerance to gliadin. Several neurological complications have been described, including ...
Aug 4, 2016
Sariego-Jamardo A, García-Cazorla A, Artuch R, Castejón E, García-Arenas D, Molero-Luis M, Ormazábal A, Sanmartí FX
OBJECTIVE: The mechanisms of the ketogenic diet remain unclear, but several predictors of response have been proposed. We aimed is to study the relationship between the etiology of epilepsy, cerebrospinal fluid neurotr...

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