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Article

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.

Epilepsia - 1 May 2013

Touma Marlin, Joshi Mugdha, Connolly Meghan C, Grant P Ellen, Hansen Anne R, Khwaja Omar, Berry Gerard T, Kinney Hannah C, Poduri Annapurna, Agrawal Pankaj B

Abstract excerpt

Mutations in SCN2A gene cause a variety of epilepsy syndromes. We report a novel SCN2A-associated epilepsy phenotype in monozygotic twins with tonic seizures soon after birth and a suppression-burst electroencephalography (EEG) pattern. We reviewed the medical records, EEG tracings, magnetic resonance imaging (MRI), and neuropathologic findings, and performed whole genome sequencing (WGS) on Twin B's DNA and...

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PMID: 23550958
DOI: 10.1111/epi.12137
PMCID: PMC3640694

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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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