Concepedia

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis

Junko Kanno, Shigeo Kure, Ayumi Narisawa, Fumiaki Kamada, Masaru Takayanagi, Katsuya Yamamoto, Hisao Hoshino, Tomohide Goto, Takao Takahashi, Kazuhiro Haginoya,

Molecular Genetics and Metabolism · 2007 · 49 citations · 16 references

DOI

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References

16

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations

, , +11

PYRIDOXINE DEPENDENCY: REPORT OF A CASE OF INTRACTABLE CONVULSIONS IN AN INFANT CONTROLLED BY PYRIDOXINE

Andrew D. Hunt, Joseph Stokes, Wallace W. McCrory et al. · PEDIATRICS · 1954 · 415 citations

, , +13

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Barbara Plecko, Karl Paul, Eduard Paschke et al. · Human Mutation · 2006 · 167 citations

, , +15

PYRIDOXINE‐DEPENDENT SEIZURES: DEMOGRAPHIC, CLINICAL, MRI AND PSYCHOMETRIC FEATURES, AND EFFECT OF DOSE ON INTELLIGENCE QUOTIENT

Peter Baxter, Peter Griffiths, Thomas M. Kelly et al. · Developmental Medicine & Child Neurology · 1996 · 116 citations

, , +17

Pipecolic Acid as a Diagnostic Marker of Pyridoxine-Dependent Epilepsy

Barbara Plecko, Christiane Hikel, GC Korenke et al. · Neuropediatrics · 2005 · 104 citations

, , +10