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Feb 4, 2016
Koesters T, Friedman KP, Fenchel M, Zhan Y, Hermosillo G, Babb J, Jelescu IO, Faul D, Boada FE, Shepherd TM
Simultaneous PET/MR of the brain is a promising new technology for characterizing patients with suspected cognitive impairment or epilepsy. Unlike CT though, MR signal intensities do not provide a direct correlate to P...
Feb 4, 2016
Odom J, Gieron-Korthals M, Shulman D, Newkirk P, Prijoles E, Sanchez-Valle A
BACKGROUND: Hyperinsulinism-hyperammonemia syndrome is the second most common cause of congenital hyperinsulinism and is easily treated with diazoxide; however, the symptoms in our patient were very difficult to contro...
Feb 4, 2016
Lee E, Kang HC, Kim HD
A ketogenic diet (KD) is a dietary approach to treat intractable epilepsy. The KD begins with hospitalization and the child and their parents can adapt to the KD for 1-2 weeks. Recently, various type of dietary interve...
Jan 30, 2016
Patel J, Mercimek-Mahmutoglu S
Epilepsy is one of the most common neurological disorders in childhood. Epilepsy associated with global developmental delay and cognitive dysfunction is defined as epileptic encephalopathy. Certain inherited metabolic ...
Jan 29, 2016
Ventzke A, Hoffmann J, Crushell E, Monavari A, Mayne PD, Knerr I
DHPR deficiency is a rare autosomal recessively inherited metabolic disorder of tetrahydrobiopterin (BH4) regeneration. Clinical symptoms may comprise microcephaly, developmental delay, ataxia and seizures. BH4 is the ...
Jan 28, 2016
Sveberg L, Vik K, Henriksen T, Taubøll E
PURPOSE: Guidelines for women with epilepsy (WWE) are advising those on enzyme inducing drugs EIAEDs to take vitamin K the last month of pregnancy. The primary aim of this study was to investigate whether WWE have a hi...
Jan 27, 2016
Law TH, Davies ES, Pan Y, Zanghi B, Want E, Volk HA
Despite appropriate antiepileptic drug treatment, approximately one-third of humans and dogs with epilepsy continue experiencing seizures, emphasising the importance for new treatment strategies to improve the quality ...
Jan 27, 2016
Kemppainen E, George J, Garipler G, Tuomela T, Kiviranta E, Soga T, Dunn CD, Jacobs HT
The Drosophila mutant tko25t exhibits a deficiency of mitochondrial protein synthesis, leading to a global insufficiency of respiration and oxidative phosphorylation. This entrains an organismal phenotype of developmen...
Jan 25, 2016
Kass HR, Winesett SP, Bessone SK, Turner Z, Kossoff EH
PURPOSE: GLUT-1 deficiency syndrome (GLUT1DS) is a neurologic disorder manifesting as epilepsy, abnormal movements, and cognitive delay. The currently accepted treatment of choice is the classic 4:1 ratio ketogenic die...
Jan 23, 2016
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Jap...

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