Literature DB >> 6473011

[Pyridoxine-dependent convulsions : familial case].

B Lauras, B Drevon, M O Rolland, G Teyssier, M Bovier-Lapierre, F Freycon.   

Abstract

A 32 hours old boy was diagnosed as vitamin B6 dependent convulsions. This boy was the third from family, the first two died in status epilepticus at 34 hours and 15 months.

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Year:  1984        PMID: 6473011

Source DB:  PubMed          Journal:  Pediatrie        ISSN: 0031-4021


  2 in total

1.  Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Authors:  Philippa B Mills; Emma J Footitt; Kevin A Mills; Karin Tuschl; Sarah Aylett; Sophia Varadkar; Cheryl Hemingway; Neil Marlow; Janet Rennie; Peter Baxter; Olivier Dulac; Rima Nabbout; William J Craigen; Bernhard Schmitt; François Feillet; Ernst Christensen; Pascale De Lonlay; Mike G Pike; M Imelda Hughes; Eduard A Struys; Cornelis Jakobs; Sameer M Zuberi; Peter T Clayton
Journal:  Brain       Date:  2010-06-16       Impact factor: 13.501

Review 2.  Pyridoxine-dependent seizures, clinical and therapeutic aspects.

Authors:  C A Haenggeli; E Girardin; L Paunier
Journal:  Eur J Pediatr       Date:  1991-05       Impact factor: 3.183

  2 in total

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