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LARSEN , Jan

Last name: LARSEN

First name: Jan

2015 (v1)

Publication

Metadata-only

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Larsen, Jan Johannesen, Katrine Marie Ek, Jakob

The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE),...

Uploaded on: April 14, 2023
2015 (v1)

Publication

Metadata-only

The phenotypic spectrum of SCN8A encephalopathy

Larsen, Jan Carvill, Gemma L. Gardella, Elena

No description

Uploaded on: May 13, 2023