<i>SPTAN1</i>-associated developmental and epileptic encephalopathy
The article presents the clinical cases of 6 patients with epilepsy, psychomotor and speech developmental delay. The heterozygous variants of the nucleotide sequence in SPTAN1 gene were detected by whole exome sequencing. Mutations in SPTAN1 gene have been described in patients with developmental an...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2023-09-01
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| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/929 |
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