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Feb 6, 2016
Mehta Y, Shitole C, Setia MS
BACKGROUND: Neonates and infants with hypomagnesemia present with seizures and psychomotor delay. OBJECTIVES: The present study evaluated the changes in magnesium (Mg) levels and factors associated with these i...
Feb 5, 2016
Vidali S, Aminzadeh S, Lambert B, Rutherford T, Sperl W, Kofler B, Feichtinger RG
Mitochondria are the energy-producing organelles of the cell, generating ATP via oxidative phosphorylation mainly by using pyruvate derived from glycolytic processing of glucose. Ketone bodies generated by fatty acid o...
Feb 5, 2016
Jung da E, Joshi SM, Berg AT
We surveyed ketogenic diet centers in North America about their practices surrounding the ketogenic diet. An internet survey was disseminated via REDCap(©) to North American ketogenic diet centers identified from the C...
Feb 5, 2016
Mohammad SS, Coman D, Calvert S
Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phen...
Feb 5, 2016
Tejada S, Martorell M, Capó X, Tur JA, Pons A, Sureda A
Omega-3 and omega-6 fatty acids are polyunsaturated fatty acids (PUFAs) with multiple double bonds. Linolenic and alpha-linolenic acids are omega-6 and omega-3 PUFAs, precursors for the synthesis of long-chain PUFAs (L...
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 ...

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