Literature DB >> 17642476

Treatable neonatal epilepsy.

Robert Surtees1, Nicole Wolf.   

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Year:  2007        PMID： 17642476      PMCID： PMC2083881          DOI： 10.1136/adc.2007.116913

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  10 in total

1.  Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Authors:  Philippa B Mills; Eduard Struys; Cornelis Jakobs; Barbara Plecko; Peter Baxter; Matthias Baumgartner; Michèl A A P Willemsen; Heymut Omran; Uta Tacke; Birgit Uhlenberg; Bernhard Weschke; Peter T Clayton
Journal:  Nat Med       Date:  2006-02-19       Impact factor: 53.440

2.  Folinic acid-responsive neonatal seizures.

Authors:  O A Torres; V S Miller; N M Buist; K Hyland
Journal:  J Child Neurol       Date:  1999-08       Impact factor: 1.987

3.  Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

Authors:  G F Hoffmann; B Schmitt; M Windfuhr; N Wagner; H Strehl; S Bagci; A R Franz; P B Mills; P T Clayton; M R Baumgartner; B Steinmann; T Bast; N I Wolf; J Zschocke
Journal:  J Inherit Metab Dis       Date:  2006-12-23       Impact factor: 4.982

4.  Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Authors:  Philippa B Mills; Robert A H Surtees; Michael P Champion; Clare E Beesley; Neil Dalton; Peter J Scambler; Simon J R Heales; Anthony Briddon; Irene Scheimberg; Georg F Hoffmann; Johannes Zschocke; Peter T Clayton
Journal:  Hum Mol Genet       Date:  2005-03-16       Impact factor: 6.150

5.  Folinic acid-responsive seizures initially responsive to pyridoxine.

Authors:  Joost Nicolai; Vivianne H J M van Kranen-Mastenbroek; Ron A Wevers; Wilfred A P T Hurkx; Johan S H Vles
Journal:  Pediatr Neurol       Date:  2006-02       Impact factor: 3.372

Review 6.  Treatment of neonatal seizures.

Authors:  Janet Rennie; Geraldine Boylan
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2007-03       Impact factor: 5.747

7.  Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

Authors:  B Plecko; C Hikel; G-C Korenke; B Schmitt; M Baumgartner; F Baumeister; C Jakobs; E Struys; W Erwa; S Stöckler-Ipsiroglu
Journal:  Neuropediatrics       Date:  2005-06       Impact factor: 1.947

8.  Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.

Authors:  P Baxter; P Griffiths; T Kelly; D Gardner-Medwin
Journal:  Dev Med Child Neurol       Date:  1996-11       Impact factor: 5.449

9.  Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.

Authors:  P Baxter
Journal:  Arch Dis Child       Date:  1999-11       Impact factor: 3.791

10.  Antiepileptic drugs and apoptosis in the developing brain.

Authors:  Petra Bittigau; Marco Sifringer; Chrysanthy Ikonomidou
Journal:  Ann N Y Acad Sci       Date:  2003-05       Impact factor: 5.691
  10 in total
  3 in total

Review 1.  Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes.

Authors:  Su-Kyeong Hwang; Soonhak Kwon
Journal:  Korean J Pediatr       Date:  2015-11-22

Review 2.  Epilepsy and inborn errors of metabolism in children.

Authors:  N I Wolf; A García-Cazorla; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2009-07-31       Impact factor: 4.982

3.  Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS.

Authors:  Elizabeth Mary Mathew; Sudheer Moorkoth; Leslie Lewis; Pragna Rao
Journal:  Int J Anal Chem       Date:  2018-08-01       Impact factor: 1.885
  3 in total

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