You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy

8 Apr, 17 | by hqqu

Early onset epilepsy with resistance to common anticonvulsants can be due to genetic defects that respond to high doses of vitamin B6. We describe four patients with neonatal, pyridoxine (vitamin B6) responsive seizures and disease causing variants in the PROSC gene, which regulates vitamin B6 metabolism in body cells. Three patients had favorable outcome with normal intellectual properties at age 12.5, 15.5 and 30 years respectively, while one child had marked developmental delay at age 27 months. Prognosis of patients depends on early treatment with vitamin B6, an essential cofactor for normal brain function, and the underlying PROSC variants. (By Prof. Dr. Barbara Plecko, http://jmg.bmj.com/content/early/2017/04/07/jmedgenet-2017-104521 )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site



Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics