Early infantile epileptic encephalopathy type 54: clinical and neurophysiological aspects
A clinical case of a boy aged 20 months old with early infantile epileptic encephalopathy (EIEE) type 54 due to mutated HNRNPU gene presumably suffering from genetic generalized epilepsy and impaired psychomotor development is described. Exome-wide sequencing was carried out by using NextSeq 500 (Il...
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| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2021-07-01
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| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/692 |
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