Mutations in the Na+/Citrate Cotransporter NaCT (SLC13A5) in Pediatric Patients with Epilepsy and Developmental Delay

Abstract Mutations in the SLC13A5 gene that codes for the Na+/citrate cotransporter, NaCT, are associated with early onset epilepsy, developmental delay and tooth dysplasia in children. In this study, we identify additional SLC13A5 mutations in nine epilepsy patients from six families. To better cha...

Full description

Saved in:
Bibliographic Details
Main Authors: Jenna Klotz (Author), Brenda E Porter (Author), Claire Colas (Author), Avner Schlessinger (Author), Ana M Pajor (Author)
Format: Book
Published: BMC, 2016-05-01T00:00:00Z.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Connect to this object online.

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available