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Jun 3, 2015
Stockler-Ipsiroglu S, van Karnebeek CD
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], g...
Jun 3, 2015
Kossoff EH, Al-Macki N, Cervenka MC, Kim HD, Liao J, Megaw K, Nathan JK, Raimann X, Rivera R, Wiemer-Kruel A, Williams E, Zupec-Kania BA
Despite the increasing use of dietary therapies for children and adults with refractory epilepsy, the availability of these treatments in developing countries with limited resources remains suboptimal. One possible con...
Jun 2, 2015
Grier MD, Carson RP, Lagrange AH
Angelman Syndrome (AS) is a neurodevelopmental disorder characterized by a number of neurological problems, including developmental delay, movement disorders and epilepsy. AS results from the loss of UBE3A (an imprinte...
Jun 1, 2015
Coughlin CR, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL
Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by response to pharmacologic doses of pyridoxine. PDE is caused by deficiency of α-aminoadipic semialdehyde dehydrogenase resulting in im...
May 27, 2015
Blaise JH, Ruskin DN, Koranda JL, Masino SA
Ketogenic diets are low-carbohydrate, sufficient protein, high-fat diets with anticonvulsant activity used primarily as a treatment for pediatric epilepsy. The anticonvulsant mechanism is thought to involve elevating i...
May 26, 2015
Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic encephalopathy caused by a mutation in the SLC2A1 gene. This mutation causes a compromised transport of glucose across the blood-brain barri...
May 26, 2015
Sivaraju A, Nussbaum I, Cardoza CS, Mattson RH
Ketogenic diet has been shown to be efficacious in some epileptic encephalopathies but rarely reported as being useful in children with Ohtahara syndrome. This could possibly be attributed to the rarity of the disease ...
May 24, 2015
Mescka CP, Guerreiro G, Donida B, Marchetti D, Wayhs CA, Ribas GS, Coitinho AS, Wajner M, Dutra-Filho CS, Vargas CR
Maple Syrup Urine Disease (MSUD) is a metabolic disorder caused by a severe deficiency of the branched-chain α-keto acid dehydrogenase complex activity which leads to the accumulation of branched-chain amino acids (BCA...
May 23, 2015
Finsterer J, Kothari S
May 23, 2015
Fung LW