SLC2A1

Chr 1

solute carrier family 2 member 1

Also known as: CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1

NCBI Gene: 6513 ENSG00000117394 UniProt: P11166

The protein facilitates glucose transport across the blood-brain barrier and provides the brain's primary energy supply through constitutive glucose uptake. Mutations cause GLUT1 deficiency syndrome with infantile-onset seizures and developmental delays or childhood-onset paroxysmal movement disorders, dystonia, and epilepsy through impaired brain glucose transport. Inheritance is autosomal dominant or autosomal recessive depending on the specific mutation and phenotype severity.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGLUT1 deficiency syndrome 1

UniProtGLUT1 deficiency syndrome 2

UniProtEpilepsy, idiopathic generalized 12

UniProtDystonia 9

Clinical highlights

Management implications

The ketogenic diet provides an alternative brain fuel and is the treatment of choice.Start a ketogenic diet early — it treats the seizures and movement disorder and improves developmental outcome.

SLC2A1: treatable — ketogenic diet

Gene-disease validity (ClinGen)

GLUT1 deficiency syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

242

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — SLC2A1

Authoritative clinical overview · Recommended first read

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Treatment implicationsTreatable

GLUT1 deficiency syndrome

Start a ketogenic diet early — it treats the seizures and movement disorder and improves developmental outcome.

The ketogenic diet provides an alternative brain fuel and is the treatment of choice.

Treatment of choice

ketogenic diet (or modified Atkins diet)

Klepper et al. 2020 consensus, Epilepsia Open. Confirm with a neurologist and current guidelines. Functional class (GOF/LOF) is from published functional/segregation data, never inferred from the variant. As of 2026-07. Curated from the clinical genetics/neurology literature (cited per gene). Decision-support, not prescribing.