Diagnostic criteria for glucose transporter 1 deficiency syndrome (GLUT1DS)

	Mandatory	Alerts	Exclusionary
Seizures	Seizures, which may be focal or generalized, including absence seizures (often beginning before 3 years of age)
Neurologic examination		Focal neurologic findings (other than Todd paresis)
Other testing (eg, genetics)	Pathogenic SLC2A1 variant OR Low fasting CSF glucose and CSF/plasma glucose ratio*		Other documented etiology for hypoglycorrhachia
Course of illness	Intellectual disability	Seizures that are controlled with medication Lack of improvement in seizures with ketogenic diet Lack of movement disorders such as ataxia, paroxysmal exercise-induced dyskinesia, dystonia
Is MRI or ictal EEG required for diagnosis? An MRI is not required for diagnosis but is strongly recommended to exclude other causes An ictal EEG is not required for diagnosis
Syndrome without laboratory confirmation: In resource-limited regions, GLUT1DS can be diagnosed without EEG, MRI, or genetic studies in children without alerts who meet all other mandatory and exclusionary clinical criteria. CSF studies are required for diagnosis.

CSF: cerebrospinal fluid; MRI: magnetic resonance imaging; EEG: electroencephalography.

* CSF glucose may not be as low in later-onset epilepsies associated with GLUT1 deficiency syndrome.

From: Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022; 63:1349. Copyright © 2022 The Authors. Available at: https://onlinelibrary.wiley.com/doi/10.1111/epi.17239 (Accessed on November 14, 2022). Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Diagnostic criteria for glucose transporter 1 deficiency syndrome (GLUT1DS)