Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene

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...

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Bibliographic Details
Main Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Luk’yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko, N. N. Zavadenko
Format: Article
Language:Russian
Published: IRBIS LLC 2021-04-01
Series:Эпилепсия и пароксизмальные состояния
Subjects:
epilepsy
microcephaly
hearing loss
mental retardation
whole exome sequencing
Online Access:https://www.epilepsia.su/jour/article/view/655
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https://www.epilepsia.su/jour/article/view/655

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