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Jul 26, 2014
Lin LC, Ouyang CS, Chiang CT, Wu HC, Yang RC
PURPOSE: There are many treatments being developed for patients with epilepsy, including anti-epileptic drugs, ketogenic diet and vagus nerve stimulation. To date, there is a lack of valid methods to predict at an earl...
Jul 22, 2014
Mescka CP, Wayhs CA, Guerreiro G, Manfredini V, Dutra-Filho CS, Vargas CR
Maple syrup urine disease (MSUD) is an inherited aminoacidopathy caused by a deficiency in branched-chain α-keto acid dehydrogenase complex activity that leads to the accumulation of the branched-chain amino acids (BCA...
Jul 20, 2014
von Schoen-Angerer T, Madeleyn R, Kienle G, Kiene H, Vagedes J
Viscum album (European mistletoe) extracts have known immunomodulatory effects but little data exist on anticonvulsant activity despite its usefulness having been reported for centuries. A 4½-year-old girl with childho...
Jul 18, 2014
Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K
DISEASE CHARACTERISTICS: The phenotypes of dihydrolipoamide dehydrogenase (DLD) deficiency are an overlapping continuum that ranges from early-onset neurologic manifestations to adult-onset isolated liver involvement. ...
Jul 16, 2014
Wolking S, Becker F, Bast T, Wiemer-Kruel A, Mayer T, Lerche H, Weber YG
Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy includ...
Jul 16, 2014
Buda P, Piekutowska-Abramczuk D, Karkucińska-Więckowska A, Jurkiewicz E, Chełstowska S, Pajdowska M, Migdał M, Książyk J, Kotulska K, Pronicka E
UNLABELLED: We describe a child with dyslexia and difficulty in school who, at the age of 13 years, began to suffer from several head injuries resulting from falls of uncertain cause. Two years later, the patient devel...
Jul 16, 2014
Aylward NM, Shah N, Sellers EA
Initiation of the ketogenic diet in a child with epilepsy and type 1 diabetes mellitus presents a challenge because the distinction between diet-induced ketosis and diabetic ketoacidosis is difficult to discern. We rep...
Jul 12, 2014
Caraballo RH, Fortini S, Fresler S, Armeno M, Ariela A, Cresta A, Mestre G, Escobal N
PURPOSE: The ketogenic diet (KD) has been used as an alternative to antiepileptic drugs (AEDs) for patients with refractory epilepsy. Lennox-Gastaut syndrome (LGS) belongs to the group of epileptic encephalopathies tha...
Jul 12, 2014
Ahn Y, Narous M, Tobias R, Rho JM, Mychasiuk R
Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by abnormal social interactions, communication deficits and stereotyped or repetitive behaviors. Although the etiology of A...
Jul 12, 2014
Hawkes CP, Levine MA
CONTEXT: The ketogenic diet is increasingly used in refractory epilepsy and is associated with clinically significant effects on bone and mineral metabolism. Although hypercalciuria and loss of bone mineral density are...