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Feb 10, 2016
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P, autosomal recessive working group of the EuroEPINOMICS RES Consortium
The epileptic encephalopathies are a clinically and aetiologically heterogeneous subgroup of epilepsy syndromes. Most epileptic encephalopathies have a genetic cause and patients are often found to carry a heterozygous...
Feb 10, 2016
Castro K, Baronio D, Perry IS, Riesgo RD, Gottfried C
OBJECTIVES: Autism spectrum disorder (ASD) is characterized by impairments in social interaction and communication, and by restricted repetitive behaviors and interests. Its etiology is still unknown, but different env...
Feb 10, 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 ...
Feb 10, 2016
Landgrave-Gómez J, Mercado-Gómez OF, Vázquez-García M, Rodríguez-Molina V, Córdova-Dávalos L, Arriaga-Ávila V, Miranda-Martínez A, Guevara-Guzmán R
A new generation of antiepileptic drugs has emerged; however, one-third of epilepsy patients do not properly respond to pharmacological treatments. The purpose of the present study was to investigate whether time-restr...
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...

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