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Jan 8, 2015
De Giorgis V, Teutonico F, Cereda C, Balottin U, Bianchi M, Giordano L, Olivotto S, Ragona F, Tagliabue A, Zorzi G, Nardocci N, Veggiotti P
PURPOSE: GLUT1 deficiency syndrome is a treatable neurological disorder characterized by developmental delay, movement disorders and epilepsy. It is caused by mutations in the SLC2A1 gene inherited as an autosomal domi...
Jan 7, 2015
Haberlandt E, Karall D, Jud V, Baumgartner SS, Zotter S, Rostasy K, Baumann M, Scholl-Buergi S
This is a report on the successful treatment of a 6-year-old girl with genetically proven glucose transporter type 1 deficiency syndrome (GLUT1-DS) with modified Atkins diet (MAD). GLUT1-DS is an inborn disorder of glu...
Dec 31, 2014
Fukuda M, Kawabe M, Takehara M, Iwano S, Kuwabara K, Kikuchi C, Wakamoto H, Morimoto T, Suzuki Y, Ishii E
BACKGROUND: Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and ent...
Dec 24, 2014
Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA
GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and movement disord...
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...