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Article

Technological and computational approaches to detect somatic mosaicism in epilepsy.

Neurobiology of disease - 1 Aug 2023

Boßelmann Christian M, Leu Costin, Lal Dennis

Abstract excerpt

Lesional epilepsy is a common and severe disease commonly associated with malformations of cortical development, including focal cortical dysplasia and hemimegalencephaly. Recent advances in sequencing and variant calling technologies have identified several genetic causes, including both short/single nucleotide and structural somatic variation. In this review, we aim to provide a comprehensive overview of the...

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Identifiers

PMID: 37343892
DOI: 10.1016/j.nbd.2023.106208
PMCID: PMC13178637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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