Literature DB >> 19165905

Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.

P L Pearl, S M Gospe.   

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Year:  2007        PMID： 19165905     DOI： 10.1007/s10545-008-9974-1

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  12 in total

1.  Neonatal epileptic encephalopathy.

Authors:  P T Clayton; R A H Surtees; C DeVile; K Hyland; S J R Heales
Journal:  Lancet       Date:  2003-05-10       Impact factor: 79.321

2.  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

3.  Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.

Authors:  G Battaglioli; D R Rosen; S M Gospe; D L Martin
Journal:  Neurology       Date:  2000-07-25       Impact factor: 9.910

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.  A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.

Authors:  V Cormier-Daire; N Dagoneau; R Nabbout; L Burglen; C Penet; C Soufflet; I Desguerre; A Munnich; O Dulac
Journal:  Am J Hum Genet       Date:  2000-09-07       Impact factor: 11.025

6.  Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.

Authors:  B Plecko; S Stöckler-Ipsiroglu; E Paschke; W Erwa; E A Struys; C Jakobs
Journal:  Ann Neurol       Date:  2000-07       Impact factor: 10.422

Review 7.  Pyridoxine-dependent seizures: findings from recent studies pose new questions.

Authors:  Sidney M Gospe
Journal:  Pediatr Neurol       Date:  2002-03       Impact factor: 3.372

8.  Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.

Authors:  C L Bennett; H M Huynh; P F Chance; I A Glass; S M Gospe
Journal:  Neurogenetics       Date:  2005-08-02       Impact factor: 2.660

Review 9.  Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.

Authors:  Sidney M Gospe
Journal:  Curr Opin Neurol       Date:  2006-04       Impact factor: 5.710

10.  Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine.

Authors:  A D HUNT; J STOKES; W W McCRORY; H H STROUD
Journal:  Pediatrics       Date:  1954-02       Impact factor: 7.124
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  4 in total

Review 1.  The genetics of the epilepsies.

Authors:  Christelle M El Achkar; Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Curr Neurol Neurosci Rep       Date:  2015-07       Impact factor: 5.081

Review 2.  New treatment paradigms in neonatal metabolic epilepsies.

Authors:  P L Pearl
Journal:  J Inherit Metab Dis       Date:  2009-02-24       Impact factor: 4.982

3.  Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

Authors:  Gregory J Basura; Shawn P Hagland; Anna M Wiltse; Sidney M Gospe
Journal:  Eur J Pediatr       Date:  2008-09-02       Impact factor: 3.183

4.  Metabolic causes of epileptic encephalopathy.

Authors:  Joe Yuezhou Yu; Phillip L Pearl
Journal:  Epilepsy Res Treat       Date:  2013-05-22
  4 in total

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