Pyridoxine-dependent epilepsy

Common Name(s)

Pyridoxine-dependent epilepsy, Pyridoxine-Dependent Seizures

Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion. .
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyridoxine-dependent epilepsy" for support, advocacy or research.

Logo
Pyridoxine-Dependent Seizures Registry

The Pyridoxine-Dependent Seizures (PDS) Registry was developed to help clinicians and patients learn more about the variety of clinical presentations of PDS (also known as pyridoxine-dependent epilepsy), the response of the disorder to various dosage regimens of pyridoxine, the imaging and EEG characteristics of the disorder, and the long term developmental consequences of PDS.

Last Updated: 23 Oct 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyridoxine-dependent epilepsy" for support, advocacy or research.

Logo
Pyridoxine-Dependent Seizures Registry

The Pyridoxine-Dependent Seizures (PDS) Registry was developed to help clinicians and patients learn more about the variety of clinical presentations of PDS (also known as pyridoxine-dependent epilepsy), the response of the disorder to various dosage regimens of pyridoxine, the imaging and EEG characteristics of the disorder, and the long term developmental consequences of PDS.

http://faculty.washington.edu/sgospe/pyridoxine/

Last Updated: 23 Oct 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

Registry Web Site

Our web site describes the project along with background information regarding pyridoxine-dependent epilepsy.

Updated 23 Oct 2012

Go To URL
Registry Web Site

Web site contains information regarding the registry project, as well as background information regarding pyridoxine-dependent seizures, its natural history and management.

Updated 23 Oct 2012

Go To URL
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pyridoxine-dependent epilepsy" returned 23 free, full-text research articles on human participants. First 3 results:

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
 

Author(s): Heather C Mefford, Matthew Zemel, Eileen Geraghty, Joseph Cook, Peter T Clayton, Karl Paul, Barbara Plecko, Philippa B Mills, Douglas R Nordli, Sidney M Gospe

Journal: Neurology. 2015 Sep;85(9):756-62.

 

To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.

Last Updated: 1 Sep 2015

Go To URL
Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy.
 

Author(s): Melissa Cirillo, Charu Venkatesan, John J Millichap, Cynthia V Stack, Douglas R Nordli

Journal: Pediatrics. 2015 Jul;136(1):e257-61.

 

Pyridoxine-dependent epilepsy is a rare, autosomal recessive, treatable cause of neonatal seizures. Genetic testing can confirm mutations in the ALDH7A1 gene, which encodes antiquitin. To avoid delays in initiating treatment while awaiting confirmatory genetic testing, it is recommended ...

Last Updated: 3 Jul 2015

Go To URL
Corpus callosum alterations in pyridoxine-dependent epilepsy: a mirror image of an ongoing disease?
 

Author(s): Bernhard Schmitt

Journal: Dev Med Child Neurol. 2014 Nov;56(11):1039-40.

 

Last Updated: 11 Oct 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pyridoxine-dependent epilepsy" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.