Title : Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.

Pub. Date : 2019 Jun

PMID : 30937933






2 Functional Relationships(s)
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1 Finally, we demonstrate that treatment of a 20-month-old SLC1A2-related epilepsy patient with the SLC1A2-modulating agent ceftriaxone did not result in a significant change in daily spasm count. Ceftriaxone solute carrier family 1 member 2 Homo sapiens
2 Finally, we demonstrate that treatment of a 20-month-old SLC1A2-related epilepsy patient with the SLC1A2-modulating agent ceftriaxone did not result in a significant change in daily spasm count. Ceftriaxone solute carrier family 1 member 2 Homo sapiens