Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.

doi:10.1111/epi.17943

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Article

Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.

Epilepsia - 1 May 2024

Carton Robert J, Doyle Michael G, Kearney Hugh, Steward Charles A, Lench Nicholas J, Rogers Anthony, Heinzen Erin L, McDonald Seamus, Fay Joanna, Lacey Austin, Beausang Alan, Cryan Jane, Brett Francesca, El-Naggar Hany, Widdess-Walsh Peter, Costello Daniel, Kilbride Ronan, Doherty Colin P, Sweeney Kieron J, O'Brien Donncha F, Henshall David C, Delanty Norman, Cavalleri Gianpiero L, Benson Katherine A

Abstract excerpt

OBJECTIVE: The contribution of somatic variants to epilepsy has recently been demonstrated, particularly in the etiology of malformations of cortical development. The aim of this study was to determine the diagnostic yield of somatic variants in genes that have been previously associated with a somatic or germline epilepsy model, ascertained from resected brain tissue from patients with multidrug-resistant focal...

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Identifiers

PMID: 38491957
DOI: 10.1111/epi.17943
PMCID: PMC12962753

Genes

ALG13
CBL
FLNA
MTOR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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