离子通道病
医学
钠通道
磁共振成像
正电子发射断层摄影术
神经影像学
突变
神经科学
核磁共振
基因
钠
核医学
内科学
遗传学
放射科
生物
物理
精神科
有机化学
化学
作者
Nikhil Seniaray,Ritu Verma,Praveen Kumar,Ethel Belho
标识
DOI:10.1097/rlu.0000000000006110
摘要
SCN2A gene mutations, which affect the function of the voltage-gated sodium channel NaV1.2, are associated with a spectrum of neurological disorders, including epileptic encephalopathies and autism spectrum disorders. Advanced imaging modalities such as magnetic resonance imaging (MRI) and positron emission tomography (PET) have been instrumental in elucidating the neuroanatomic and functional alterations associated with these mutations.
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