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本文引用的文献
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Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.
Neurology. 2022 Dec 5;99(23):1036-1041. doi: 10.1212/WNL.0000000000201469.
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Detection of brain somatic variation in epilepsy-associated developmental lesions.
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Somatic mosaicism correlates with clinical findings in epilepsy brain tissue.
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Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
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BRAF V600E mutation in neocortical posterior temporal epileptogenic gangliogliomas.
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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
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Somatic activation of AKT3 causes hemispheric developmental brain malformations.
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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
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