[New paper] SLC35A2 mutation in intractable epilepsy

December 4, 2018

A new paper published in Neurology Genetics.

 

In this study, Hyeonju Son and Sangwoo Kim analyzed sequencing data from patients with intractable epilepsy to confirm that mutations in SLC35A2 is the cause of the epilepsy with aberrant N-glycosylation.

 

"Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation", Neurology Genetics 2018, 4:e294

 

 

 

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