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A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report

• Authors : Lívia Maria Ferreira Sobrinho; Thiago Oliveira Silva; Lilia Farret Refosco

Subjects: Molecular diagnosis; GLUT1 deficiency syndrome; SLC2A gene

• Source: Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101164- (2024)

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Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome

• Authors : University of Roma La Sapienza

• Source: Harmonic Ratio in Patients With GLUT1 Deficiency SyndromeAlter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo

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Red Blood Cell Exchange Transfusion as a Novel Treatment for GLUT1 Deficiency Syndrome

• Authors : Juan Pascual, Professor; Director of the Rare Brain Disorders Program

• Source: Red Blood Cell Exchange Transfusion as a Novel Treatment for GLUT1 Deficiency SyndromeLee EE, Ma J, Sacharidou A, Mi W, Salato VK,

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Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test (METAglut1)

• Authors : European Commission; Assistance Publique - Hôpitaux de Paris; Cemka-Eval

• Source: Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency SyndromeGras D,

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Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases

• Authors : Sara Olivotto; Alessandra Duse; Stefania Maria Bova

Subjects: Glut1 deficiency syndrome; Familial GLUT1-DS; Quality of life

• Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)

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Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

• Authors : Tugce Bozkurt; Yasemin Alanay; Ugur Isik

Subjects: Whole exome sequencing; SLC2A1; GLUT1 Deficiency Syndrome 1

• Source: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)

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Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

• Authors : Naeimeh Tayebi; Brian Leon‐Ricardo; Kevin McCall

Subjects: Neurosciences. Biological psychiatry. Neuropsychiatry; RC321-571; Neurology. Diseases of the nervous system

• Source: Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 787-801 (2023)

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P056: Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D)

• Authors : Andrea Gropman; Kosar Khaksari; Wei-Liang Chen

Subjects: Genetics; QH426-470; Medicine

• Source: Genetics in Medicine Open, Vol 2, Iss , Pp 100933- (2024)

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Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome

• Authors : Olivotto, Sara; Freddi, Anna; Previtali, Roberto ...

Subjects: Epilepsy; Glucose transporter-1 (GLUT1) deficiency syndrome; Ketogenic diet

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Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.

• Authors : Tayebi, Naeimeh¹ (AUTHOR); Leon‐Ricardo, Brian¹ (AUTHOR); McCall, Kevin¹ (AUTHOR)

• Source: Annals of Clinical & Translational Neurology. May2023, Vol. 10 Issue 5, p787-801. 15p.

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