(Q38417136)

English

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

scientific article published on 29 March 2010

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scholarly article

1 reference

Europe PubMed Central

2 September 2017

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency (English)

1 reference

Europe PubMed Central

2 September 2017

pyridoxine-dependent epilepsy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Matthias R Baumgartner

2

1 reference

Europe PubMed Central

2 September 2017

author name string

Bernhard Schmitt

1

1 reference

Europe PubMed Central

2 September 2017

Philippa B Mills

3

1 reference

Europe PubMed Central

2 September 2017

Peter T Clayton

4

1 reference

Europe PubMed Central

2 September 2017

Cornelis Jakobs

5

1 reference

Europe PubMed Central

2 September 2017

Elmar Keller

6

1 reference

Europe PubMed Central

2 September 2017

Gabriele Wohlrab

7

1 reference

Europe PubMed Central

2 September 2017

publication date

29 March 2010

1 reference

Europe PubMed Central

2 September 2017

Developmental Medicine and Child Neurology

1 reference

Europe PubMed Central

2 September 2017

52

1 reference

Europe PubMed Central

2 September 2017

7

1 reference

Europe PubMed Central

2 September 2017

e133-42

1 reference

Europe PubMed Central

2 September 2017

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Neonatal seizures with tonic clonic sequences and poor developmental outcome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Pyridoxine dependent seizures--a wider clinical spectrum

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Pyridoxine-dependent seizures, clinical and therapeutic aspects

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Pyridoxine-dependent seizures: report of a case with atypical clinical features and abnormal MRI scans

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Reduced GABA synthesis in pyridoxine-dependent seizures.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Long-term follow-up of an individual with vitamin B6-dependent seizures.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Neonatal epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Characterization and classification of neonatal seizures.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03660.X

21 January 2018

Identifiers

10.1111/J.1469-8749.2010.03660.X

1 reference

Europe PubMed Central

2 September 2017

release_lz4q3xizjratvawkh2r757vqim

1 reference

https://api.fatcat.wiki/v0/release/lz4q3xizjratvawkh2r757vqim

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

2 September 2017

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