Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter.

Ahmed BoAli,Kalthoum Tlili-Graiess,Amal AlHashem,Saad AlShahwan,Giulio Zuccoli,Brahim Tabarki

Pediatric Neurology（2019）

引用 7|浏览7

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摘要

This novel homozygous mutation of the AIMP1 gene is characterized by preserved development of the periventricular and deep white matter structures as demonstrated by MRI and MR spectroscopy correlation.

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关键词

AIMP1,Cerebral white matter,Epilepsy,N-acetylaspartate

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