Study of Seizure-Manifested Hartnup Disorder Case Induced by Novel Mutations in SLC6A19

Affiliations

Zhu Yanmei: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
Chen Li: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
He Jia: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
Chen Yan: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
Gou Haiyan: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
Ma Long: Second Department of Internal Medicine, Second Hospital of Heilongjiang Province, Harbin, China
Qu Youyang: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
Liu Yu: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
Wang Di: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
Zhu Yulan: Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China

Abstract

The aim of the study is to investigate a variation in the gene SLC6A19 in a female patient with Hartnup disorder manifested only by seizure.