Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). (Q33944232)

30 July 2017

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

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pyridoxine-dependent epilepsy

30 July 2017

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22

Sameer M Zuberi

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Sophia Varadkar

6

object named as

Sophia Varadkar

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30 July 2017

Philippa B Mills

1

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30 July 2017

Emma J Footitt

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30 July 2017

Kevin A Mills

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30 July 2017

Karin Tuschl

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30 July 2017

Sarah Aylett

5

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30 July 2017

Cheryl Hemingway

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30 July 2017

Neil Marlow

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30 July 2017

Janet Rennie

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30 July 2017

Peter Baxter

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30 July 2017

Olivier Dulac

11

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30 July 2017

Rima Nabbout

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30 July 2017

William J Craigen

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30 July 2017

Bernhard Schmitt

14

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30 July 2017

François Feillet

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30 July 2017

Ernst Christensen

16

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30 July 2017

Pascale De Lonlay

17

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30 July 2017

Mike G Pike

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30 July 2017

M Imelda Hughes

19

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30 July 2017

Eduard A Struys

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30 July 2017

Cornelis Jakobs

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30 July 2017

Sameer M Zuberi

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30 July 2017

Peter T Clayton

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30 July 2017

language of work or name

English

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publication date

16 June 2010

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30 July 2017

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30 July 2017

133

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30 July 2017

Pt 7

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30 July 2017

2148-2159

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Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

B6-responsive disorders: a model of vitamin dependency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Serine racemase: activation by glutamate neurotransmission via glutamate receptor interacting protein and mediation of neuronal migration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

CSF glutamate/GABA concentrations in pyridoxine-dependent seizures: etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Relationships within the aldehyde dehydrogenase extended family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Reduced GABA synthesis in pyridoxine-dependent seizures.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Pyridoxine-dependent convulsions. Apropos of a further case

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

5 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ143

Disturbance of GABA metabolism in pyridoxine-dependent seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ143

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ143

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ143

Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ143

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892945

[Pyridoxine-dependent convulsions : familial case]

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20554659

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWQ143

1 reference

30 July 2017

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30 July 2017

1 reference