Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency.


Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
05 10 2022
Historique:
entrez: 5 10 2022
pubmed: 6 10 2022
medline: 12 10 2022
Statut: ppublish

Résumé

Individuals with glucose transporter type I deficiency (G1D) habitually experience nutrient-responsive epilepsy associated with decreased brain glucose. However, the mechanistic association between blood glucose concentration and brain excitability in the context of G1D remains to be elucidated. Electroencephalography (EEG) in G1D individuals revealed nutrition time-dependent seizure oscillations often associated with preserved volition despite electrographic generalization and uniform average oscillation duration and periodicity, suggesting increased facilitation of an underlying neural loop circuit. Nonlinear EEG ictal source localization analysis and simultaneous EEG/functional magnetic resonance imaging converged on the thalamus-sensorimotor cortex as one potential circuit, and

Identifiants

pubmed: 36197967
doi: 10.1126/scitranslmed.abn2956
pmc: PMC10276203
mid: NIHMS1904657
doi:

Substances chimiques

Blood Glucose 0
Glucose Transport Proteins, Facilitative 0
Monosaccharide Transport Proteins 0
Carbon 7440-44-0
alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid 77521-29-0
Glycogen 9005-79-2
Deoxyglucose 9G2MP84A8W

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

eabn2956

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS077015
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS094257
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS102588
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS116824
Pays : United States

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Auteurs

Karthik Rajasekaran (K)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Qian Ma (Q)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Levi B Good (LB)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Gauri Kathote (G)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Vikram Jakkamsetti (V)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Peiying Liu (P)

Advanced Imaging Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Adrian Avila (A)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Sharon Primeaux (S)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Julio Enciso Alva (J)

Department of Mathematics, University of Texas at Arlington, Arlington, TX 76019, USA.

Kia H Markussen (KH)

Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40506, USA.

Isaac Marin-Valencia (I)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Deepa Sirsi (D)

Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Peter M S Hacker (PMS)

St. John's College and Department of Philosophy, University of Oxford, Oxford OX1 3JP, UK.
University College London Queen's Square Institute of Neurology, London WC1N 3BG, UK.

Matthew S Gentry (MS)

Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40506, USA.

Jianzhong Su (J)

Department of Mathematics, University of Texas at Arlington, Arlington, TX 76019, USA.

Hanzhang Lu (H)

Advanced Imaging Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Juan M Pascual (JM)

Rare Brain Disorders Program, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Department of Physiology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Eugene McDermott Center for Human Growth and Development/Center for Human Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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