The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (Q24616654)

1

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Chad Brocker

2

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Geralyn Creadon-Swindell

4

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Renata C Gallagher

5

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Elaine Spector

6

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Johan L K Van Hove

Journal of Inherited Metabolic Disease

7

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language of work or name

English

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publication date

October 2010

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published in

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volume

33

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issue

5

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page(s)

571-81

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exact match

https://scigraph.springernature.com/pub.10.1007/s10545-010-9187-2

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cites work

Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress

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A simple method for displaying the hydropathic character of a protein

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures

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

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Structural aspects of aldehyde dehydrogenase that influence dimer-tetramer formation

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Oxidation of 4-hydroxy-2-nonenal by succinic semialdehyde dehydrogenase (ALDH5A)

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

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

27 September 2017

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

27 September 2017

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

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

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

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

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

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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27 September 2017

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Pyridoxine-dependent seizures, clinical and therapeutic aspects

27 September 2017

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27 September 2017

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30 May 2018

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

28 November 2018

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

28 November 2018

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28 November 2018

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Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: A hospital based prospective study

28 November 2018

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Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures

28 November 2018

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

28 November 2018

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Role of the C-terminal tail on the quaternary structure of aldehyde dehydrogenases

28 November 2018

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Current perspectives on pyridoxine-dependent seizures

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Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus

28 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/20814824

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel mutations in pyridoxine-dependent epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20814824