A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family

Clin Genet. 2023 May;103(5):609-611. doi: 10.1111/cge.14271. Epub 2022 Dec 20.

Authors

Salem Alawbathani¹, Suliman Khan¹, Ana Westenberger², Christian Beetz¹, Lokesh Lingappa³

Affiliations

¹ CENTOGENE GmbH, Rostock, Germany.
² Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
³ Department of Neurology, Rainbow Hospital for Women and Children, Hyderabad, India.

PMID: 36539921
DOI: 10.1111/cge.14271

No abstract available

Publication types

Letter

MeSH terms

Codon, Nonsense
Epilepsy, Generalized* / genetics
Humans
Spasms, Infantile* / genetics

Substances

Codon, Nonsense
SLC38A3 protein, human