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Filamin A Gene Associated Periventricular Nodular eterotopia and Epilepsy in a Cohort of Chinese Patients 被引量:1

Filamin A Gene Associated Periventricular Nodular eterotopia and Epilepsy in a Cohort of Chinese Patients
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摘要 Periventricular nodular heterotopia (PNH) is a cortical malformation commonly found in epilepsy patients caused by the failure of neurons to migrate.Patients with PNH present with various clinical manifestations and genetic mutations. Despite their remarkable structural malformations, PNH patients generally have no neurological deficits or cognitive disabilities. However, particularly in patients with abnormal cortical development, the systematic abnormalities can also be severely delayed. Periventricular nodular heterotopia (PNH) is a cortical malformation commonly found in epilepsy patients caused by the failure of neurons to migrate.Patients with PNH present with various clinical manifestations and genetic mutations. Despite their remarkable structural malformations, PNH patients generally have no neurological deficits or cognitive disabilities. However, particularly in patients with abnormal cortical development, the systematic abnormalities can also be severely delayed.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2017年第20期2506-2507,共2页 中华医学杂志(英文版)
关键词 Filamin A: Periventricular Nodular Heterotopia PHENOTYPE Social Support Filamin A: Periventricular Nodular Heterotopia Phenotype Social Support
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