Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome-Reference-Cited by-同舟云学术

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

Published:2023-04 Issue: Volume:447 Page:120597
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Nabatame Shin,Tanigawa Junpei,Tominaga Koji,Kagitani-Shimono Kuriko,Yanagihara Keiko,Imai Katsumi,Ando Toru,Tsuyusaki Yu,Araya Nami,Matsufuji Mayumi,Natsume Jun,Yuge Kotaro,Bratkovic Drago,Arai Hiroshi,Okinaga Takeshi,Matsushige Takeshi,Azuma Yoshiteru,Ishihara Naoko,Miyatake Satoko,Kato Mitsuhiro,Matsumoto Naomichi,Okamoto Nobuhiko,Takahashi Satoru,Hattori Satoshi,Ozono Keiichi

Funder

Ministry of Health, Labour and Welfare

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference47 articles.

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2. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency;Mullen;Neurology,2010

3. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1;Suls;Brain,2008

4. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak;Weber;J. Clin. Invest.,2008

5. Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan;Ito;Brain Dev.,2015

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1. A novel duplication mutation of SLC2A1 gene causing glucose transporter 1 deficiency syndrome;Gene;2024-11

2. The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review;European Journal of Pediatrics;2024-07-02

3. Introduction and modification of the ketogenic diet in an adult patient with glucose transporter 1 deficiency syndrome;Epileptic Disorders;2024-03-16