Literature DB >> 11409832

Pyridoxine-dependent and pyridoxine-responsive seizures.

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Year:  2001        PMID: 11409832     DOI: 10.1017/s0012162201000779

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


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  28 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

2.  Epidemiology of pyridoxine dependent seizures in the Netherlands.

Authors:  J V Been; L A Bok; P Andriessen; W O Renier
Journal:  Arch Dis Child       Date:  2005-09-13       Impact factor: 3.791

3.  Clinical characteristics of two cohorts of infantile spasms: response to pyridoxine or topiramate monotherapy.

Authors:  Jiao Xue; Ping Qian; Hui Li; Ye Wu; Hui Xiong; Yue-Hua Zhang; Zhi-Xian Yang
Journal:  World J Pediatr       Date:  2018-04-26       Impact factor: 2.764

4.  Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.

Authors:  Abdelaziz Tlili; Nadia Hamida Hentati; Abdellatif Gargouri; Faiza Fakhfakh
Journal:  Mol Biol Rep       Date:  2012-10-10       Impact factor: 2.316

5.  Vitamin B6 is essential for serine de novo biosynthesis.

Authors:  Rúben J Ramos; Mia L Pras-Raves; Johan Gerrits; Maria van der Ham; Marcel Willemsen; Hubertus Prinsen; Boudewijn Burgering; Judith J Jans; Nanda M Verhoeven-Duif
Journal:  J Inherit Metab Dis       Date:  2017-08-11       Impact factor: 4.982

6.  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

7.  The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

Authors:  Gunter Scharer; Chad Brocker; Vasilis Vasiliou; Geralyn Creadon-Swindell; Renata C Gallagher; Elaine Spector; Johan L K Van Hove
Journal:  J Inherit Metab Dis       Date:  2010-09-03       Impact factor: 4.982

8.  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

Review 9.  Neonatal seizures: an update on mechanisms and management.

Authors:  Frances E Jensen
Journal:  Clin Perinatol       Date:  2009-12       Impact factor: 3.430

10.  Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

Authors:  Clara D M van Karnebeek; Sylvia Stockler-Ipsiroglu; Sravan Jaggumantri; Birgit Assmann; Peter Baxter; Daniela Buhas; Levinus A Bok; Barbara Cheng; Curtis R Coughlin; Anibh M Das; Alette Giezen; Wahla Al-Hertani; Gloria Ho; Uta Meyer; Philippa Mills; Barbara Plecko; Eduard Struys; Keiko Ueda; Monique Albersen; Nanda Verhoeven; Sidney M Gospe; Renata C Gallagher; Johan K L Van Hove; Hans Hartmann
Journal:  JIMD Rep       Date:  2014-04-19
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