A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31 (Q34144208)

31 July 2017

0 references

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

1 reference

pyridoxine-dependent epilepsy

31 July 2017

1 reference

8

0 references

author name string

V Cormier-Daire

1

1 reference

31 July 2017

N Dagoneau

2

1 reference

31 July 2017

R Nabbout

3

1 reference

31 July 2017

L Burglen

4

1 reference

31 July 2017

C Penet

5

1 reference

31 July 2017

C Soufflet

6

1 reference

31 July 2017

I Desguerre

7

1 reference

31 July 2017

O Dulac

9

1 reference

31 July 2017

language of work or name

English

0 references

publication date

7 September 2000

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

67

1 reference

31 July 2017

4

1 reference

31 July 2017

991-993

1 reference

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287902

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287902

A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287902

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287902

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287902

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287902

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287902

Integrated physical and transcript map of 5q31.3-qter

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10978228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SIGNS OF PYRIDOXINE DEPENDENCY MANIFEST AT BIRTH IN SIBLINGS

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10978228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Vitamin B 6 -dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B 6 dependent convulsion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10978228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/303087

1 reference

31 July 2017

1 reference

31 July 2017

1 reference