pyridoxine-dependent epilepsy

 

Pyridoxine-Dependent Epilepsy is part of our Childhood Epilepsy Panel (NGS). Click here to access a complete list of the genes covered in this panel

 

 

DESCRIPTION

 

This type of epilepsy is conditioned by a dependency on pyridoxine (vitamin B6), and characterized by intractable seizures (of diverse typology). These seizures have an origin in pyridoxine dependency and are not controlled with antiepileptic drugs but rather by consuming supplements of pyridoxine on a daily basis.

 

Some symptoms can indicate this condition in individuals with intractable seizures, such as irritability, restlessness and vomiting preceding a seizure, cryptogenic (without obvious cause) seizures in previously normal infants without abnormal history, long-lasting seizures with preservation of consciousness, parental consanguinity, and others. There are also other atypical symptoms that can indicate a pyridoxine-dependent epilepsy, for example a lack of response to antiepileptic drugs, hypoxic ischemic encephalopathy in neonates, a history on deficient response to pyridoxine or seizures in children under age 1 without apparent brain malformations, among others.

 

Pyridoxine-dependent epilepsy is inherited and recessive in nature. Through genetic testing, it is possible to know if the patient is both affected and a carrier, an asymptomatic carrier, or none of these. 

 

All of Amplexa's neurology tests can be found in our Neurology Brochure.

 

 

 

 

 

 

 

 

 

 

 

Additional sources: National Center for Biotechnology Information. Stockler et al, 2011. Goutières & Aicardi, 1985.

neurology