Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

doi:10.1002/ajmg.a.64204

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Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American journal of medical genetics. Part A - 1 Dec 2025

Alsayed Ala'a, Hakim Zainab, Merrikh Daria, Khanbabaei Maryam, Kaur Navprabhjot, Hader Walter, Soule Tyler, Ashtiani Setareh, Polanco-Tovar Grace, Scantlebury Morris, Rahi Hamed, Cao Yang, Chan Jennifer A, Appendino Juan P, Pfeffer Gerald, Au Ping Yee Billie, Klein Karl Martin

Abstract excerpt

Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present a patient with structural focal epilepsy due to focal cortical...

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Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

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