Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene
We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound heterozygous variants of the nucleotide sequence in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutations in the SPATA5 gene have been des...
Main Authors: | , , , , , , , |
---|---|
Format: | Article |
Language: | Russian |
Published: |
IRBIS LLC
2021-04-01
|
Series: | Эпилепсия и пароксизмальные состояния |
Subjects: | |
Online Access: | https://www.epilepsia.su/jour/article/view/655 |