Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2014 1
2015 2
2019 1
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

4 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Childhood onset GLUT1 deficiency syndrome 2"
Page 1
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
Lebon S, Suarez P, Alija S, Korff CM, Fluss J, Mercati D, Datta AN, Poloni C, Marcoz JP, Campos-Xavier AB, Bonafé L, Roulet-Perez E. Lebon S, et al. Eur J Paediatr Neurol. 2015 Mar;19(2):170-5. doi: 10.1016/j.ejpn.2014.11.009. Epub 2014 Dec 11. Eur J Paediatr Neurol. 2015. PMID: 25532859
We compared our results with a systematic review of 7 publications of series of patients with generalized epilepsies screened for SLC2A1 mutations. RESULTS: We found 2/93 (2.1%) patients with a SLC2A1 mutation. One, carrying a novel de novo deletion had epilepsy wit …
We compared our results with a systematic review of 7 publications of series of patients with generalized epilepsies screened for SLC2A1 mut …
Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
Soto-Insuga V, López RG, Losada-Del Pozo R, Rodrigo-Moreno M, Cayuelas EM, Giráldez BG, Díaz-Gómez E, Sánchez-Martín G, García LO, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI). Soto-Insuga V, et al. Epilepsy Res. 2019 Aug;154:39-41. doi: 10.1016/j.eplepsyres.2019.04.003. Epub 2019 Apr 21. Epilepsy Res. 2019. PMID: 31035243
Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well a …
Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: …
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
Jiménez Legido M, Cortés Ledesma C, Bernardino Cuesta B, López Marín L, Cantarín Extremera V, Pérez-Cerdá C, Pérez González B, López Martín E, González Gutiérrez-Solana L. Jiménez Legido M, et al. Neurologia (Engl Ed). 2022 Mar;37(2):91-100. doi: 10.1016/j.nrleng.2018.10.023. Epub 2021 Feb 8. Neurologia (Engl Ed). 2022. PMID: 35279228 Free article.
INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. ...Six patients were positive for SLC2A1 mutations; in the other 5, another genetic de …
INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epile …
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F; MAE working group of EuroEPINOMICS RES Consortium; Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS. Larsen J, et al. Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5. Epilepsia. 2015. PMID: 26537434 Free article.
Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. ...Mutations in …
Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early ons …