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Article

Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.

American journal of medical genetics. Part A - 1 Jul 2024

Nishino Megumi, Tanaka Mai, Imagawa Kazuo, Yaita Katsuyuki, Enokizono Takashi, Ohto Tatsuyuki, Suzuki Hisato, Yamada Mamiko, Takenouchi Toshiki, Kosaki Kenjiro, Takada Hidetoshi

Abstract excerpt

WOREE syndrome is an early infantile epileptic encephalopathy characterized by drug-resistant seizures and severe psychomotor developmental delays. We report a case of a WWOX splice-site mutation with uniparental isodisomy. A 1-year and 7-month-old girl presented with nystagmus and epileptic seizures from early infancy, with no fixation or pursuit of vision. Physical examination revealed small deformities, such...

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Identifiers

PMID: 38407561
DOI: 10.1002/ajmg.a.63575

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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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Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.PMID 38407561Read ↗

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