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Jun 21, 2016
Martin K, Jackson CF, Levy RG, Cooper PN
BACKGROUND: The ketogenic diet (KD), being high in fat and low in carbohydrates, has been suggested to reduce seizure frequency. It is currently used mainly for children who continue to have seizures despite treatment ...
Jun 18, 2016
Doksöz Ö, Güzel O, Yılmaz Ü, İşgüder R, Çeleğen K, Meşe T, Uysal U
The aim of this prospective study is to investigate the effect of a 6-month-long ketogenic diet on carotid intima-media thickness, carotid artery, and aortic vascular functions. Thirty-eight drug-resistant epileptic pa...
Jun 18, 2016
Appavu B, Mangum T, Obeid M
BACKGROUND: Epileptic myoclonus in infancy is associated with various pathological conditions. In the absence of an identifiable central nervous system lesion, an underlying metabolic genetic cause is often suspected. ...
Jun 18, 2016
Jaggumantri S, Dunbar M, Edgar V, Mignone C, Newlove T, Elango R, Collet JP, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
BACKGROUND: Creatine transporter (SLC6A8) deficiency is an X-linked inborn error of metabolism characterized by cerebral creatine deficiency, behavioral problems, seizures, hypotonia, and intellectual developmental dis...
Jun 18, 2016
Lionel AC, Monfared N, Scherer SW, Marshall CR, Mercimek-Mahmutoglu S
We report a new patient with refractory epilepsy associated with a novel pathogenic homozygous MED23 variant. This 7.5-year-old boy from consanguineous parents had infantile onset global developmental delay and refract...
Jun 11, 2016
Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder due to mutations or deletions in SLC2A1, resulting in impaired glucose uptake through the blood brain barrier. The class...
Jun 11, 2016
Gokay S, Kendirci M, Soylu Ustkoyuncu P, Kardas F, Kacar Bayram A, Per H, Poyrazoğlu HG
BACKGROUND: Tyrosinemia type II is a rare autosomal recessive disorder caused by the deficiency of tyrosine aminotransferase (TAT). It may occur with symptoms of ocular and cutaneous whether with or without mental reta...
Jun 10, 2016
Oni T, Unwin N
In today's globalized world, rapid urbanization, mechanization of the rural economy, and the activities of trans-national food, drink and tobacco corporations are associated with behavioral changes that increase the ri...
Jun 10, 2016
Dressler A, Trimmel-Schwahofer P, Reithofer E, Gröppel G, Mühlebner A, Samueli S, Grabner V, Abraham K, Benninger F, Feucht M
OBJECTIVE: To evaluate the efficacy and safety of the ketogenic diet (KD) in infants (< 1.5 years of age) compared with older children. METHODS: Patients with complete follow-up data of ≥ 3 months after initiat...
Jun 10, 2016
Bhandary S, Aguan K
The pyruvate dehydrogenase complex (PDHc) is a member of a family of multienzyme complexes that provides the link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the physiologically irreversible...

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