P332: Presentation of an individual with a 3.3 Mb duplication in 3q13.2q13.31

Genetics in Medicine Open 2026 Open access

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Authors: Burke Berry, Su Min Lee, Gaynel La Touche, Kathy Yearwood, Shannon C. Shipley, Tomoki T. Nomakuchi, Dong Li, Elizabeth J. K. Bhoj, Theresa A. Wilson, Sarah H. Elsea, Andrew K. Sobering
DOI: 10.1016/j.gimo.2026.103826
Cited by: 0

Abstract

At age 24 he began daily creatine supplements (2.5 g) because of the low creatine findings on GMAPS. At age 26, his epilepsy medication was switched to levetiracetam 2000 mg/day with breakthrough seizures, and increased to 3000 mg/day after three weeks. His epilepsy remains uncontrolled and sodium valproate is being considered.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Epilepsy research and treatment Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103826–103826
Publication date
1 January 2026
Language
EN