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

Publication ,  Journal Article
Bennett, CL; Chen, Y; Hahn, S; Glass, IA; Gospe, SM
Published in: Epilepsia
May 2009

PURPOSE: Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin gene (ALDH7A1) are now recognized as the molecular basis of cases of neonatal-onset PDS. METHODS: Bidirectional DNA sequence analysis of ALDH7A1 was undertaken along with plasma pipecolic acid (PA) measurements to determine the prevalence of ALDH7A1 mutations in a cohort of 18 North American patients with PDS. RESULTS: In patients with neonatal-onset PDS, compound heterozygous or homozygous ALDH7A1 mutations were detected in 10 of 12 cases, and a single mutation was found in the remaining 2. In later-onset cases, mutations in ALDH7A1 were detected in three of six cases. In two patients with infantile spasms responsive to pyridoxine treatment and with good clinical outcomes, no mutations were found and PA levels were normal. In total, 13 novel mutations were identified. DISCUSSION: Our study advances previous findings that defects of ALDH7A1 are almost always the cause of neonatal-onset PDS and that defects in this gene are also responsible for some but not all later-onset cases. Later-onset cases of infantile spasms with good outcomes lacked evidence for antiquitin dysfunction, suggesting that this phenotype is less compelling for PDS.

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Published In

Epilepsia

DOI

EISSN

1528-1167

Publication Date

May 2009

Volume

50

Issue

5

Start / End Page

1167 / 1175

Location

United States

Related Subject Headings

  • Vitamin B Complex
  • Sequence Analysis, Protein
  • Seizures
  • Pyridoxine
  • Prevalence
  • Pipecolic Acids
  • North America
  • Neurology & Neurosurgery
  • Mutation
  • Male
 

Citation

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Bennett, C. L., Chen, Y., Hahn, S., Glass, I. A., & Gospe, S. M. (2009). Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia, 50(5), 1167–1175. https://doi.org/10.1111/j.1528-1167.2008.01816.x
Bennett, Craig L., Yingzhang Chen, Sihoun Hahn, Ian A. Glass, and Sidney M. Gospe. “Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.Epilepsia 50, no. 5 (May 2009): 1167–75. https://doi.org/10.1111/j.1528-1167.2008.01816.x.
Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia. 2009 May;50(5):1167–75.
Bennett, Craig L., et al. “Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.Epilepsia, vol. 50, no. 5, May 2009, pp. 1167–75. Pubmed, doi:10.1111/j.1528-1167.2008.01816.x.
Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia. 2009 May;50(5):1167–1175.
Journal cover image

Published In

Epilepsia

DOI

EISSN

1528-1167

Publication Date

May 2009

Volume

50

Issue

5

Start / End Page

1167 / 1175

Location

United States

Related Subject Headings

  • Vitamin B Complex
  • Sequence Analysis, Protein
  • Seizures
  • Pyridoxine
  • Prevalence
  • Pipecolic Acids
  • North America
  • Neurology & Neurosurgery
  • Mutation
  • Male