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Article

Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy.

Epilepsia - 1 Oct 2022

Strehlow Vincent, Rieubland Claudine, Gallati Sabina, Kim Sukhan, Myers Scott J, Peterson Vincent, Ramsey Amy J, Teuscher Daniel D, Traynelis Stephen F, Lemke Johannes R

Abstract excerpt

We report on an 8-year-old girl with severe developmental and epileptic encephalopathy due to the compound heterozygous null variants p.(Gln661*) and p.(Leu830Profs*2) in GRIN2A resulting in a knockout of the human GluN2A subunit of the N-methyl-D-aspartate receptor. Both parents had less severe GRIN2A-related phenotypes and were heterozygous carriers of the respective null variant. Functional investigations of...

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PMID: 35983985
DOI: 10.1111/epi.17394
PMCID: PMC10681797

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