نتایج جستجو برای: pyridoxine dependent epilepsy

تعداد نتایج: 745226  

Journal: :Archives of general psychiatry 2010
Kenneth S Kendler Charles O Gardner

CONTEXT Most environmental risk factors for psychiatric disorders cannot be studied experimentally, making causal attributions difficult. Can we address this question by using together 2 major methods for causal inference: natural experiments and specialized statistical methods? OBJECTIVE To determine the causal relationship between dependent stressful life events (dSLEs) and prior depressive...

2014
M. L. Spangler

Efficiency seems to be a global buzzword that is thrown about with multiple, and often unclear, meanings. Generally it is used in the context of improved feed utilization or reproductive performance. However the premise of this paper is to argue that efficiency can also be gained by simply using available genetic resources in a more optimal manor. An example of optimal use is the clear delineat...

Journal: :Epilepsia 2015
Saadet Mercimek-Mahmutoglu Jaina Patel Dawn Cordeiro Stacy Hewson David Callen Elizabeth J Donner Cecil D Hahn Peter Kannu Jeff Kobayashi Berge A Minassian Mahendranath Moharir Komudi Siriwardena Shelly K Weiss Rosanna Weksberg O Carter Snead

OBJECTIVE Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic. METHODS We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics ...

2008
Sam Manthorpe Jean-Yves Le Boudec

1 A comparison of ABR and UBR to support TCP tra c Sam Manthorpe and Jean-Yves Le Boudec Abstract| This paper compares the performance of ABR and UBR for providing high-speed network interconnection services for TCP tra c. We test the hypothesis that UBR with adequate bu ering in the ATM switches results in better overall goodput for TCP tra c than explicit rate ABR for LAN interconnection. Thi...

2010
Omid Yaghini Mohammad-Amir Shahkarami Somayeh Shamsaii Viroj Wiwanitki Sedigheh Ebrahimi Soheil Ashkani Esfahani Hamidreza Ghafarian Mahsima Khoshneviszade

Omid Yaghini, MD; Mohammad-Amir Shahkarami*, MD; Somayeh Shamsaii, MD Pediatrics Department, Isfahan University of Medical Sciences, Isfahan, IR Iran Received: Nov 02, 2009; Accepted: Mar 13, 2010 Vitamin B6 (pyridoxine) dependent seizure (PDS) is an autosomal-recessively inherited disorder which starts within a few hours of birth or even earlier, and can cause intrauterine seizures[1,2]. It oc...

Journal: :Archives of disease in childhood 1999
P Baxter

OBJECTIVE To study the epidemiology of pyridoxine dependent seizures and other forms of pyridoxine responsive seizures. DESIGN Monthly notifications to the British Paediatric Surveillance Unit over two years. Questionnaire follow up. SETTING UK and the Republic of Ireland. PATIENTS Children aged 15 years or younger whose seizures respond to pyridoxine. INTERVENTIONS None. MAIN OUTCOME...

Journal: :Pediatric Neurology Briefs 1996

Journal: :Neurology 2021

Hundreds of distinct epilepsy-causing genes have been identified.1 The vitamin B6-dependent epilepsies are a heterogeneous group genetic disorders due to incomplete formation, transport, or inactivation pyridoxal 5′-phosphate (PLP).2 ALDH7A1 , PNPO ALPL ALDH4A1 and more recently PLPBP implicated.3 Characteristic presentation includes neonatal onset encephalopathy seizures refractory first-line ...

Journal: :Investigative ophthalmology & visual science 1981
J J Dutton T Krupin C Fritz B Becker

Isolated rabbit iris--ciliary body preparations were found to accumulate 3H-pyridoxine by a mechanism that was time- and temperature-dependent, saturable in part, but not altered by omission of oxygen or specific ions. Tissue accumulation was only partially energy-dependent, and metabolic inhibitors had only small effects. Other B6 vitamers markedly blocked accumulation. Metabolism of 3H-pyrido...

Journal: :Bioscience, biotechnology, and biochemistry 2006
Dai Shimada Ayumi Fukuda Hiroaki Kanouchi Mitsuharu Matsumoto Tatsuzo Oka

Growth of FRM cells was inhibited by the addition of pyridoxine in a dose-dependent manner. Use of 5 mM pyridoxine caused an almost complete arrest of cell growth. Pyridoxal was as effective as pyridoxine, but pyridoxamine showed weak inhibitory action. Electron-microscopic examination of control cells revealed large nuclei and cellular membranes with villi, but, in pyridoxine-treated cells, co...

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