Understanding the Spectrum of SLC2A1-Associated Disorders

Investigators from the Danish Epilepsy Center the frequency of SLC2A1 mutations in a cohort of patients with different types of epilepsies.

Bibliographic Details
Published in:	Pediatric Neurology Briefs
Main Authors:	Marytery Fajardo, Melissa L. Cirillo
Format:	Article
Language:	English
Published:	Pediatric Neurology Briefs Publishers 2017-02-01
Subjects:	slc2a1 glut1 epilepsy
Online Access:	https://www.pediatricneurologybriefs.com/articles/3798

Similar Items

A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient
by: Ala Üstyol, et al.
Published: (2019-12-01)

GLUT-1 DEFICIENCY: FROM PATHOPHYSILOGY AND GENETICS TO ABROAD CLINICAL SPECTRUM
by: Arsov Todor
Published: (2016-07-01)

Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review
by: Qingqing Hu, et al.
Published: (2021-11-01)

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
by: Tugce Bozkurt, et al.
Published: (2021-07-01)

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders
by: Katrine M. Johannesen, et al.
Published: (2023-08-01)

Editorial: SLC6A1: the past, present and future
by: Katrine M. Johannesen, et al.
Published: (2023-10-01)

Clinical Variability of GLUT1DS
by: Anastasia Martinez-Esteve Melnikova, et al.
Published: (2015-02-01)

GLUT5 (SLC2A5) enables fructose-mediated proliferation independent of ketohexokinase
by: Roger J. Liang, et al.
Published: (2021-03-01)

DMC-BH derivative DMC-GF inhibits the growth of glioma stem cells by targeting the TRIM33/SLC25A1/mitochondrial oxidative phosphorylation pathway
by: Lei Shi, et al.
Published: (2025-03-01)

A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report
by: Lívia Maria Ferreira Sobrinho, et al.
Published: (2024-12-01)

Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome
by: Sachie Nakamura, et al.
Published: (2023-03-01)

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
by: Benedetta Kassabian, et al.
Published: (2023-07-01)

Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
by: Benedetta Kassabian, et al.
Published: (2023-08-01)

Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder
by: Sanjana Kalvakuntla, et al.
Published: (2023-02-01)

Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases
by: Davide Caputo, et al.
Published: (2023-06-01)

Whole exon screening of SLC2A4 gene and the association of rs5435 with type 2 diabetes in a Bangladeshi case-control study
by: Mohammad Mamunur Rashid, et al.
Published: (2025-09-01)

The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunctionResearch in context
by: Peter Kovermann, et al.
Published: (2025-04-01)

GLUT3/SLC2A3 Is an Endogenous Marker of Hypoxia in Prostate Cancer Cell Lines and Patient-Derived Xenograft Tumors
by: John M. Ryniawec, et al.
Published: (2022-03-01)

The Impact of SLC2A8 RNA Interference on Glucose Uptake and the Transcriptome of Human Trophoblast Cells
by: Aleksandra Lipka, et al.
Published: (2024-02-01)

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome
by: Sachie Nakamura, et al.
Published: (2017-03-01)

Effects of Valproic Acid on Cerebral Nutrient Carriers' Expression in the Rat
by: Aniv Mann Brukner, et al.
Published: (2018-09-01)

Editorial: SLC12A5-dependent neurological disorders
by: Igor Medina, et al.
Published: (2025-05-01)

Altered Regulation of the Glucose Transporter GLUT3 in PRDX1 Null Cells Caused Hypersensitivity to Arsenite
by: Reem Ali, et al.
Published: (2023-11-01)

Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9
by: Popovska-Jankovic K, et al.
Published: (2009-01-01)

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications
by: Jennifer M. Bain, et al.
Published: (2022-06-01)

Practical experience and challenges in nutritional management of glucose transporter 1 deficiency syndrome: Provider survey results
by: Diana Lehner‐Gulotta, et al.
Published: (2025-04-01)

Differential SLC1A2 Promoter Methylation in Bipolar Disorder With or Without Addiction
by: Yun-Fang Jia, et al.
Published: (2017-07-01)

A New Pathway Promotes Adaptation of Human Glioblastoma Cells to Glucose Starvation
by: Alberto Azzalin, et al.
Published: (2020-05-01)

SLC2A9 rs16890979 reduces uric acid absorption by kidney organoids
by: Shouhai Wu, et al.
Published: (2024-01-01)

Melatonin Uptake by Cells: An Answer to Its Relationship with Glucose?
by: Juan C. Mayo, et al.
Published: (2018-08-01)

Discovery and Synthesis of Hydroxy-<span style="font-variant: small-caps">l</span>-Proline Blockers of the Neutral Amino Acid Transporters SLC1A4 (ASCT1) and SLC1A5 (ASCT2)
by: Brent R. Lyda, et al.
Published: (2024-05-01)

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients
by: Hong-Xia Wang, et al.
Published: (2016-01-01)

Downregulation of lncRNA SLC7A11-AS1 decreased the NRF2/SLC7A11 expression and inhibited the progression of colorectal cancer cells
by: Tian Wang, et al.
Published: (2023-04-01)

De Vivo disease (myoclonic-astatic epilepsy combined with chorea): literature review, clinical case description
by: N. I. Shova, et al.
Published: (2024-07-01)

CES1 and SLC6A2 Genetic Variants As Predictors of Response To Methylphenidate in Autism Spectrum Disorders
by: Hernandez MH, et al.
Published: (2022-11-01)

LKB1‐SIK2 loss drives uveal melanoma proliferation and hypersensitivity to SLC8A1 and ROS inhibition
by: Sarah Proteau, et al.
Published: (2023-11-01)

Ketogenic Diet for Seizure Management in Glucose Transporter Type 1 Deficiency Syndrome: A Case Report
by: Soma Basu, et al.
Published: (2025-02-01)

Insights into the Interaction of Lysosomal Amino Acid Transporters SLC38A9 and SLC36A1 Involved in mTORC1 Signaling in C2C12 Cells
by: Dan Wang, et al.
Published: (2021-09-01)

Single-cell profiling of SLC family transporters: uncovering the role of SLC7A1 in osteosarcoma
by: Yan Liao, et al.
Published: (2025-01-01)

Abnormal Weakening of DNA Methylation around the SLC6A1 Gene Promoter in Temporal Lobe Epilepsy
by: Hua Tao, et al.
Published: (2024-09-01)