Literature DB >> 3977296

Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants.

F Goutières, J Aicardi.   

Abstract

We report on 3 patients with atypical pyridoxine-dependent seizures. Each had either late onset of convulsions (2 cases) or seizure-free intervals of up to several months' duration in the absence of pyridoxine supplementation. The findings, taken together with those in 9 previously reported cases, indicate that a trial of pyridoxine should be performed in all seizure disorders with onset before 18 months of age, regardless of type.

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Year:  1985        PMID: 3977296     DOI: 10.1002/ana.410170203

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  21 in total

Review 1.  Review: Normal and abnormal central nervous system GABA metabolism in childhood.

Authors:  J Jaeken; P Casaer; K D Haegele; P J Schechter
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Management of intractable epilepsy.

Authors:  J H Livingston
Journal:  Arch Dis Child       Date:  1991-12       Impact factor: 3.791

3.  Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.

Authors:  Malcolm Proudfoot; Philip Jardine; Agne Straukiene; Rupert Noad; Andrew Parrish; Sian Ellard; Stuart Weatherby
Journal:  JIMD Rep       Date:  2013-02-12

4.  Current treatment and management of pyridoxine-dependent epilepsy.

Authors:  Clara D M van Karnebeek; Sravan Jaggumantri
Journal:  Curr Treat Options Neurol       Date:  2015-02       Impact factor: 3.598

5.  Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Authors:  Raffaele Falsaperla; Maria Stella Vari; Irene Toldo; Alessandra Murgia; Stefano Sartori; Marilena Vecchi; Agnese Suppiej; Alberto Burlina; Mario Mastrangelo; Vincenzo Leuzzi; Valentina Marchiani; Paola De Liso; Giuseppe Capovilla; Pasquale Striano; Giovanna Vitaliti
Journal:  Metab Brain Dis       Date:  2017-11-25       Impact factor: 3.584

Review 6.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

7.  Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.

Authors:  R Nabbout; C Soufflet; P Plouin; O Dulac
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1999-09       Impact factor: 5.747

8.  Management of pediatric status epilepticus.

Authors:  Nicholas S Abend; Tobias Loddenkemper
Journal:  Curr Treat Options Neurol       Date:  2014-07       Impact factor: 3.598

9.  Efficacy of pyridoxine in early-onset idiopathic intractable seizures in children.

Authors:  Devendra Mishra; Veena Kalra; Rachna Seth; Sheffali Gulati; Narayan Saha
Journal:  Indian J Pediatr       Date:  2010-09-10       Impact factor: 1.967

10.  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

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