(Q46630788)

23 December 2017

title

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures (English)

1 reference

23 December 2017

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C L Bennett

1

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23 December 2017

H M Huynh

2

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23 December 2017

P F Chance

3

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23 December 2017

I A Glass

4

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23 December 2017

S M Gospe

5

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23 December 2017

publication date

2 August 2005

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23 December 2017

published in

Neurogenetics

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23 December 2017

volume

6

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23 December 2017

issue

3

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23 December 2017

page(s)

143-149

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23 December 2017

https://scigraph.springernature.com/pub.10.1007/s10048-005-0221-8

exact match

0 references

cites work

Pyridoxine-dependent seizures: a clinical and biochemical conundrum

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0221-8

Vitamin B6-dependent seizures: Pathology and chemical findings in brain

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0221-8

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

21 January 2018

1 reference

12 December 2020

The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q

1 reference

12 December 2020

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.

1 reference

12 December 2020

Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine.

1 reference

12 December 2020

Pyridoxine-dependent seizures: findings from recent studies pose new questions

1 reference

12 December 2020

Abnormally high pyridoxine requirement; summary of evidence suggesting relation between this finding and clinical pyridoxine "deficiency"

1 reference

12 December 2020

Disturbance of GABA metabolism in pyridoxine-dependent seizures

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12 December 2020

Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures.

1 reference

12 December 2020

Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures

1 reference

12 December 2020

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

1 reference

12 December 2020

Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine

1 reference

12 December 2020

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

12 December 2020

10.1007/S10048-005-0221-8

Identifiers

DOI

1 reference

23 December 2017

PubMed ID

16075246

1 reference

23 December 2017