Literature DB >> 10356240

Demographics and diagnosis of pyridoxine-dependent seizures.

M Ebinger, C Schultze, S König.   

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Year:  1999        PMID： 10356240     DOI： 10.1016/s0022-3476(99)70307-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  9 in total

1.  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

2.  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

3.  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 4.  B6-responsive disorders: a model of vitamin dependency.

Authors:  Peter T Clayton
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 5.  Treatable Genetic Metabolic Epilepsies.

Authors:  Lama Assi; Youssef Saklawi; Pascale E Karam; Makram Obeid
Journal:  Curr Treat Options Neurol       Date:  2017-09       Impact factor: 3.598

6.  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

7.  First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.

Authors:  Savina Tincheva; Tihomir Todorov; Albena Todorova; Ralica Georgieva; Dimitar Stamatov; Iglika Yordanova; Tanya Kadiyska; Bilyana Georgieva; Maria Bojidarova; Genoveva Tacheva; Ivan Litvinenko; Vanyo Mitev
Journal:  Neurol Sci       Date:  2015-08-01       Impact factor: 3.307

Review 8.  The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Authors:  Curtis R Coughlin; Michael A Swanson; Elaine Spector; Naomi J L Meeks; Kathryn E Kronquist; Mezhgan Aslamy; Michael F Wempe; Clara D M van Karnebeek; Sidney M Gospe; Verena G Aziz; Becky P Tsai; Hanlin Gao; Peter L Nagy; Keith Hyland; Silvy J M van Dooren; Gajja S Salomons; Johan L K Van Hove
Journal:  J Inherit Metab Dis       Date:  2019-02-22       Impact factor: 4.982

9.  Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.

Authors:  Zhixian Yang; Xiaoling Yang; Ye Wu; Jingmin Wang; Yuehua Zhang; Hui Xiong; Yuwu Jiang; Jiong Qin
Journal:  PLoS One       Date:  2014-03-24       Impact factor: 3.240
  9 in total

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