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Mar 29, 2016
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 imprint...
Mar 29, 2016
Haider SI, Ansari Z, Vaughan L, Matters H, Emerson E
Although polypharmacy is a medication safety concern leading to increased risk of non-adherence, adverse drug reaction and drug-drug interactions, polypharmacy and associated risk factors has rarely been investigated i...
Mar 26, 2016
Prabhakar A, Quach A, Zhang H, Terrera M, Jackemeyer D, Xian X, Tsow F, Tao N, Forzani ES
BACKGROUND: Ketogenic diets are high fat and low carbohydrate or very low carbohydrate diets, which render high production of ketones upon consumption known as nutritional ketosis (NK). Ketosis is also produced during ...
Mar 24, 2016
Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T
SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe infantile spasms with hypsarrhythmia, and d...
Mar 22, 2016
Vargas L CP, Varela E X, Kleinsteuber S K, Cortés Z R, Avaria B ML
Pediatric Status Epilepticus (SE) is an emergency situation with high morbidity and mortality that requires early and aggressive management. The minimum time criterion to define SE was reduced from 30 to 5 minutes, def...
Mar 19, 2016
Filippin FA, Alfonso A, Lopez-Presas H
INTRODUCTION: The celiac disease is an autoimmune bowel disease trigger by gliadine proteins, that can has systemic involvement with varied neurological manifestation since polineuropathy, ataxia, epilepsy, migraine to...
Mar 18, 2016
Gama IR, Trindade-Filho EM, Oliveira SL, Bueno NB, Melo IT, Cabral-Junior CR, Barros EM, Galvão JA, Pereira WS, Ferreira RC, Domingos BR, da Rocha Ataide T
Two sources of medium-chain triglycerides--triheptanoin with anaplerotic properties and coconut oil with antioxidant features--have emerged as promising therapeutic options for the management of pharmacoresistant epile...
Mar 16, 2016
von Schoen-Angerer T, Madeleyn R, Kienle G, Kiene H, Vagedes J
Viscum album (European mistletoe) extracts have known immunomodulatory effects but little data exist on anticonvulsant activity despite its usefulness having been reported for centuries. A 4½-year-old girl with childho...
Mar 12, 2016
Wallace A, Wirrell E, Kenney-Jung DL
Dravet syndrome (DS) is an intractable pediatric epilepsy syndrome, starting in early childhood. This disorder typically manifests with febrile status epilepticus, and progresses to a multifocal epilepsy with febrile a...
Mar 12, 2016
Klepper J