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GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)
Genes, 12 (2021), 9; 1379. https://doi.org/10.3390/genes12091379
Kolić, Ivana; Radić Nišević, Jelena; Vlašić Cicvarić, Inge; Butorac Ahel, Ivona; Lah Tomulić, Kristina; Šegulja, Silvije; Baraba Dekanić, Kristina; Serifi, Senada; Ovuka, Aleksandar; Prpić, Igor

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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Kolić, I., Radić Nišević, J., Vlašić Cicvarić, I., Butorac Ahel, I., Lah Tomulić, K., Šegulja, S. ... Prpić, I. (2021). GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report). Genes, 12. (9). doi: 10.3390/genes12091379

Kolić, Ivana, et al. "GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)." Genes, vol. 12, br. 9, 2021. https://doi.org/10.3390/genes12091379

Kolić, Ivana, Jelena Radić Nišević, Inge Vlašić Cicvarić, Ivona Butorac Ahel, Kristina Lah Tomulić, Silvije Šegulja, Kristina Baraba Dekanić, Senada Serifi, Aleksandar Ovuka i Igor Prpić. "GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)." Genes 12, br. 9 (2021). https://doi.org/10.3390/genes12091379

Kolić, I., et al. (2021) 'GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)', Genes, 12(9). doi: 10.3390/genes12091379

Kolić I, Radić Nišević J, Vlašić Cicvarić I, Butorac Ahel I, Lah Tomulić K, Šegulja S, i sur.. GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report). Genes [Internet]. 31.08.2021. [pristupljeno 25.12.2024.];12(9). doi: 10.3390/genes12091379

I. Kolić, et al., "GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)", Genes, vol. 12, br. 9, Kolovoz 2021. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:247353. [Citirano: 25.12.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:247353
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Naslov (engleski)GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)
AutorIvana Kolić
AutorJelena Radić Nišević
AutorInge Vlašić Cicvarić
AutorIvona Butorac Ahel
AutorKristina Lah Tomulić
AutorSilvije Šegulja
AutorKristina Baraba Dekanić
AutorSenada Serifi
AutorAleksandar Ovuka
AutorIgor Prpić
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za pedijatriju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Neurologija
Sažetak (engleski)
Glucose transporter type 1 (GLUT1) is the most important energy carrier of the brain across the blood–brain barrier, and a genetic defect of GLUT1 is known as GLUT1 deficiency syndrome (GLUT1DS). It is characterized by early infantile seizures, developmental delay, microcephaly, ataxia, and various paroxysmal neurological phenomena. In most cases, GLUT1DS is caused by heterozygous single-nucleotide variants (SNVs) in the SLC2A1 gene that provoke complete or severe impairment of the functionality and/or expression of GLUT1 in the brain. Despite the rarity of these diseases, GLUT1DS is of high clinical interest since a very effective therapy, the ketogenic diet, can improve or reverse symptoms, especially if it is started as early as possible. We present a clinical phenotype, biochemical analysis, electroencephalographic and neuropsychological features of an 11-month-old boy with myoclonic seizures, hypogammaglobulinemia, and mildly impaired gross motor development. Using sequence analysis and deletion/duplication testing, deletion of an entire coding sequence in the SLC2A1 gene was detected. Early introduction of a modified Atkins diet maintained a seizure-free period without antiseizure medications and normal cognitive development in the follow-up period. Our report summarizes the clinical features of GLUT1 syndromes and discusses the importance of early identification and molecular confirmation of GLUT1DS as a treatable metabolic disorder.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaGenes
Brojčani podacivol. 12, br. 9, 1379
e-ISSN2073-4425
DOIhttps://doi.org/10.3390/genes12091379
URN:NBNurn:nbn:hr:184:247353
Datum objave publikacije2021-08-31
URL dokumentahttps://www.mdpi.com/2073-4425/12/9/1379
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2022-03-22 16:26:29