Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy (DEE) caused by a mutation in the KCNT1 gene (KCNT1-DEE) is registered in the Online Mendelian Inheritance in Man (OMIM) catalogue inder code number 614959. Alternative names: DEE 14, early infantile epileptic encephalopathy 14. KCNT1-DEE most often manifes...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2025-07-01
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| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/1211 |
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| Summary: | Developmental and epileptic encephalopathy (DEE) caused by a mutation in the KCNT1 gene (KCNT1-DEE) is registered in the Online Mendelian Inheritance in Man (OMIM) catalogue inder code number 614959. Alternative names: DEE 14, early infantile epileptic encephalopathy 14. KCNT1-DEE most often manifests as a syndrome of “epilepsy in infancy with migrating focal seizures”. However, the course of epilepsies due to mutant KCNT1 gene is characterized by a broad clinical polymorphism. The article describes a child with severe KCNT1-DEE with clinical picture dominated by drug-resistant focal seizures, profound mental retardation and spastic tetraparesis, as well as microcephaly and microsomia. |
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| ISSN: | 2077-8333 2311-4088 |