Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@article{Mills2006MutationsIA,
  title={Mutations in antiquitin in individuals with pyridoxine-dependent seizures},
  author={Philippa B Mills and Eduard A. Struys and Cornelis Jakobs and Barbara Plecko and Peter Baxter and Matthias R. Baumgartner and Mich{\`e}l A.A.P. Willemsen and Heymut Omran and Uta Tacke and Birgit Uhlenberg and Bernhard Weschke and Peter T. Clayton},
  journal={Nature Medicine},
  year={2006},
  volume={12},
  pages={307-309}
}
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a Δ1-piperideine-6-carboxylate (P6C)–α-aminoadipic semialdehyde (α-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5′-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary α-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis… 
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures
TLDR
Two unrelated patients affected with PDS are reported as a result of α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency caused by pathogenic ALDH7A1/antiquitin mutations, which are novel and result in erroneous splicing as showed by messenger RNA (mRNA) studies.
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation☆
Novel mutations in pyridoxine-dependent epilepsy.
  • A. MilletG. Salomons S. Hamelin
  • Medicine, Biology
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2011
An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)
TLDR
An intriguing “silent” mutation in ALDH7A1, a novel missense mutation and a founder mutation in a Dutch cohort (10 patients) with α‐AASA dehydrogenase deficiency are reported.
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.
Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option
TLDR
The aim of this work was the clinical, biochemical, and genetic analysis of 12 unrelated patients, mostly from Spain, in an attempt to provide further valuable data regarding the wide clinical, genetic, and biochemical spectrum of the disease.
Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy
TLDR
Tissue from a child with PDE as well as control human and murine brain is analyzed to determine the normal distribution of antiquitin, its distribution in PDE, and associated brain malformations.
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene
TLDR
The first genetically proven cases of PDE in Bulgaria are reported, both clinically and electrographically, to large daily supplements of pyridoxine (vitamin B6).
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