Article
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.
Pediatric neurology - 1 Nov 2016
Palmer Samantha, Towne Meghan C, Pearl Phillip L, Pelletier Renee C, Genetti Casie A, Shi Jiahai, Beggs Alan H, Agrawal Pankaj B, Brownstein Catherine A
Abstract excerpt
BACKGROUND: Epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy or Doose syndrome, has been recently linked to variants in the SLC6A1 gene. Epilepsy with myoclonic-atonic seizures is often refractory to antiepileptic drugs, and the ketogenic diet is known for treating medically intractable seizures, although the mechanism of action is largely unknown. We report a novel SLC6A1 variant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.