GLUT-1 transporter deficiency presenting as hemiplegic migraine in an adult
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-023-02387-8.pdf
Reference5 articles.
1. Di Stefano V, Rispoli MG, Pellegrino N, Graziosi A, Rotondo E, Napoli C, Pietrobon D, Brighina F, Parisi P (2020) Diagnostic and therapeutic aspects of hemiplegic migraine. J Neurol Neurosurg Psychiatry 91(7):764–771. https://doi.org/10.1136/jnnp-2020-322850
2. Sutherland HG, Maksemous N, Albury CL, Ibrahim O, Smith RA, Lea RA, Haupt LM, Jenkins B, Tsang B, Griffiths LR (2020) Comprehensive exonic sequencing of hemiplegic migraine-related genes in a cohort of suspected probands identifies known and potential pathogenic variants. Cells 9(11):2368. https://doi.org/10.3390/cells9112368
3. Gburek-Augustat J, Heinze A, AbouJamra R, Merkenschlager A (2020) Hemiplegic migraine in glut1 deficiency syndrome and paroxysmal dyskinesia at ketogenic diet induction: case report and literature review. Mov Disord Clin Pract 7(8):965–970. https://doi.org/10.1002/mdc3.13087
4. Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC (2013) Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep 13(4):342. https://doi.org/10.1007/s11910-013-0342-7
5. Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F (2017) A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. Ann Neurol 82(1):133–138. https://doi.org/10.1002/ana.24970
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