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May 10, 2014
Leen WG, Mewasingh L, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA
BACKGROUND: Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect...
May 9, 2014
Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N
BACKGROUND: Guanidinoacetate methyltransferase (GAMT) deficiency causes cerebral creatine deficiency. Patients can have autistic behavior, seizures, intellectual disability, and severe speech delay. The goal of therapy...
May 9, 2014
Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, Frempong T, Schrager NL, Patel K, Naidich TP, Stein V, Spat J, Towns S, Wasserstein MP, Peter I, Frank Y, Diaz GA
Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC disease), but neurodevelopmental phenotypes in cblC have not previously been systematicall...
May 9, 2014
Giordano C, Marchiò M, Timofeeva E, Biagini G
Various ketogenic diet (KD) therapies, including classic KD, medium chain triglyceride administration, low glycemic index treatment, and a modified Atkins diet, have been suggested as useful in patients affected by pha...
May 9, 2014
Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R
Our aim was to report two new cases of hyperlysinemia type I describing the clinical, biochemical and molecular features of the disease and the outcome of lysine restriction. Two children presented with febrile seizure...
May 8, 2014
McNamara NA, Carbone LA, Shellhaas RA
The ketogenic diet is an effective therapy for childhood epilepsy, but its important impacts on families could affect successful treatment. We assessed medical and psychosocial factors associated with successful ketoge...
May 6, 2014
Karimzadeh P, Sedighi M, Beheshti M, Azargashb E, Ghofrani M, Abdollahe-Gorgi F
PURPOSE: Intractable epilepsy is a challenging aspects of pediatric epilepsy. This study was conducted to determine the efficacy and tolerability of Low Glycemic Index Treatment (LGIT) in pediatric patients referred to...
May 3, 2014
Engel J
Epilepsy is one of the most common serious neurological conditions, and 30 to 40% of people with epilepsy have seizures that are not controlled by medication. Patients are considered to have refractory epilepsy if disa...
May 3, 2014
Ellenbroek JH, van Dijck L, Töns HA, Rabelink TJ, Carlotti F, Ballieux BE, de Koning EJ
High-fat, low-carbohydrate ketogenic diets (KD) are used for weight loss and for treatment of refractory epilepsy. Recently, short-time studies in rodents have shown that, besides their beneficial effect on body weight...
May 3, 2014
Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo DC
Our objective is to characterize the long-term course of Glut1 deficiency syndrome. Longitudinal outcome measures, including Columbia Neurological Scores, neuropsychological tests, and adaptive behavior reports, were c...

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