Definition

GLUT1 deficiency syndrome results from (mostly de novo) pathogenic variants in the SLC2A1 gene, causing loss of function of GLUT1, the glucose transporter at the blood-brain barrier. The classic phenotype presents with seizures beginning in infancy, acquired microcephaly and movement disorder; dominant variants have also been described in early-onset absence epilepsy and some forms of generalized epilepsy. The ketogenic diet is an effective treatment option, providing the brain with an alternative energy source.

Gene/region examined

SLC2A1- Exon 1, SLC2A1- Exon 2, SLC2A1- Exon 3, SLC2A1- Exon 4, SLC2A1- Exon 5, SLC2A1- Exon 6, SLC2A1- Exon 7, SLC2A1- Exon 8, SLC2A1- Exon 9, SLC2A1- Exon 10

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant (mostly de novo variants).

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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