Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation
Objective: to analyse the clinical and neurophysiological data from a case of early infantile epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene.Material and methods. Female child M. aged 1 year and 2 months, with identified mutations in TBC1D24 gene was examined. T...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2020-01-01
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| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/499 |