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Article

Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.

American journal of medical genetics. Part A - 1 Jul 2021

Chandrasekar Indira, Tourney Anne, Loo Kamela, Carmichael Jason, James Kiely, Ellsworth Katarzyna A, Dimmock David, Joseph Maries

Abstract excerpt

Hemimegalencephaly (HME) is a rare hamartomatous congenital malformation of the brain characterized by dysplastic overgrowth of either one of the cerebral hemispheres. HME is associated with early onset seizures, abnormal neurological findings, and with subsequent cognitive and behavioral disabilities. Seizures associated with HME are often refractory to antiepileptic medications. Hemispherectomy is usually...

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PMID: 33749980
DOI: 10.1002/ajmg.a.62185

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