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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
Mar 11, 2016
Becker F, Schubert J, Weckhuysen S, Suls A, Grüninger S, Korn-Merker E, Hofmann-Peters A, Sperner J, Cross H, Hallmann K, Elger CE, Kunz WS, Madeleyen R, Lerche H, Weber YG
In the recent years, several neurological syndromes related to defects of the glucose transporter type 1 (Glut1) have been descried. They include the glucose transporter deficiency syndrome (Glut1-DS) as the most sever...
Mar 11, 2016
Schoeler NE, Cross JH, Drury S, Lench N, McMahon JM, MacKay MT, Scheffer IE, Sander JW, Sisodiya SM
AIM: We aimed to determine whether response to ketogenic dietary therapies (KDT) was due to undiagnosed glucose transporter type 1 deficiency syndrome (GLUT1-DS). METHOD: Targeted resequencing of the SLC2A1 gen...
Mar 11, 2016
Wong VC, Fung CW, Kwong AK
BACKGROUND: Mutation of SCN2A, encoding for voltage-gated sodium channel type II alpha subunit, has been demonstrated in various epilepsy phenotypes, ranging from benign to severe epileptic disorders and recently this ...