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Dec 20, 2014
Nellist M, Schot R, Hoogeveen-Westerveld M, Neuteboom RF, van der Louw EJ, Lequin MH, Bindels-de Heus K, Sibbles BJ, de Coo R, Brooks A, Mancini GM
Activating germ-line and somatic mutations in AKT3 (OMIM 611223) are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH; OMIM # 615937) and megalencephaly-capillary malformation (MCA...
Dec 20, 2014
Dressler A, Trimmel-Schwahofer P, Reithofer E, Mühlebner A, Gröppel G, Reiter-Fink E, Benninger F, Grassl R, Feucht M
There is strong evidence for the use of the ketogenic diet (KD) in Dravet syndrome (DS). The purpose of this study was to evaluate both effectiveness and tolerability in comparison with various antiepileptic drugs (AED...
Dec 18, 2014
Suszyńska-Zajczyk J, Luczak M, Marczak L, Jakubowski H
Homocysteine (Hcy) is a risk factor for Alzheimer's disease (AD). Bleomycin hydrolase (BLMH) participates in Hcy metabolism and is also linked to AD. The inactivation of the Blmh gene in mice causes accumulation of Hcy...
Dec 18, 2014
Lima PA, Sampaio LP, Damasceno NR
A ketogenic diet is an important therapy used in the control of drug-refractory seizures. Many studies have shown that children and adolescents following ketogenic diets exhibit an over 50% reduction in seizure frequen...
Dec 17, 2014
Andersen AH, Hansen LK
A 13-year-old boy developed seizures and intractable status epilepticus a week after having had a sore throat. Ketogenic diet possibly had some effect. Antibodies to calmodulin dependent protein kinase II were found an...
Dec 17, 2014
Snoeijen-Schouwenaars FM, van Deursen KC, Tan IY, Verschuure P, Majoie MH
BACKGROUND: Children with epilepsy and intellectual disability have an increased risk of vitamin D deficiency. In this patient group, it is neither clear which factors are associated with the level of 25-hydroxyvitamin...
Dec 17, 2014
Villamizar-Schiller IT, Pabón LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE
Sandhoff disease is a progressive neurodegenerative disorder characterized by accumulation of GM2 gangliosides. We describe a 6-year-old male with coarse facial features, developmental delay, refractory seizures, hyper...
Dec 17, 2014
Krueger JM, Piantino J, Smith CM, Angle B, Venkatesan C, Wainwright MS
Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who pre...
Dec 15, 2014
Shull S, Diaz-Medina G, Wong-Kisiel L, Nickels K, Eckert S, Wirrell E
BACKGROUND: Predictors of the ketogenic diet's success in treating pediatric intractable epilepsy are not well understood. The aim of this study was to determine whether initial body mass index and weight percentile im...
Dec 15, 2014
Flores-Mancilla LE, Hernández-González M, Guevara MA, Benavides-Haro DE, Martínez-Arteaga P
Several studies have provided evidence of significant effects of omega-3 fatty acids on brain functionality, including seizures and disorders such as epilepsy. Fish oil (FO) is a marine product rich in unsaturated omeg...

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