A clinical case of epilepsy in a female patient with double mutations in the SCN2A and PCDH19 genes
The paper describes a 6-year-old female patient with epilepsy caused by mutations in the SCN2A and PCDH19 genes, which clinically appears as epileptic seizures, drug-resistant epilepsy, secondary microcephaly, mental retardation, and autism. It reviews the literature regarding both mutations. World...
| 主要な著者: | , , , , , , |
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| フォーマット: | 論文 |
| 言語: | Russian |
| 出版事項: |
IMA-PRESS LLC
2017-06-01
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| シリーズ: | Неврология, нейропсихиатрия, психосоматика |
| 主題: | |
| オンライン･アクセス: | https://nnp.ima-press.net/nnp/article/view/731 |