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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| Format: | Article |
| Language: | Russian |
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IRBIS LLC
2025-07-01
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| Series: | Эпилепсия и пароксизмальные состояния |
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| Online Access: | https://www.epilepsia.su/jour/article/view/1211 |
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| author | A. G. Malov L. Yu. Brokhin A. V. Veselkova |
| author_facet | A. G. Malov L. Yu. Brokhin A. V. Veselkova |
| author_sort | A. G. Malov |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-97c0ce4f9a2b49819c0a953ebdecb307 |
| institution | Kabale University |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| publishDate | 2025-07-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj-art-97c0ce4f9a2b49819c0a953ebdecb3072025-08-20T03:57:32ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882025-07-0117218218810.17749/2077-8333/epi.par.con.2025.221686Severe <i>KCNT1</i>-related developmental and epileptic encephalopathyA. G. Malov0L. Yu. Brokhin1A. V. Veselkova2Vagner Perm State Medical UniversityKoryukina Children's Clinical Hospital No. 3Pichugin Children's Clinical HospitalDevelopmental 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.https://www.epilepsia.su/jour/article/view/1211<i>kcnt1</i>-related developmental and epileptic encephalopathydevelopmental and epileptic encephalopathy 14early infantile epileptic encephalopathy type 14 |
| spellingShingle | A. G. Malov L. Yu. Brokhin A. V. Veselkova Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy Эпилепсия и пароксизмальные состояния <i>kcnt1</i>-related developmental and epileptic encephalopathy developmental and epileptic encephalopathy 14 early infantile epileptic encephalopathy type 14 |
| title | Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy |
| title_full | Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy |
| title_fullStr | Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy |
| title_full_unstemmed | Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy |
| title_short | Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy |
| title_sort | severe i kcnt1 i related developmental and epileptic encephalopathy |
| topic | <i>kcnt1</i>-related developmental and epileptic encephalopathy developmental and epileptic encephalopathy 14 early infantile epileptic encephalopathy type 14 |
| url | https://www.epilepsia.su/jour/article/view/1211 |
| work_keys_str_mv | AT agmalov severeikcnt1irelateddevelopmentalandepilepticencephalopathy AT lyubrokhin severeikcnt1irelateddevelopmentalandepilepticencephalopathy AT avveselkova severeikcnt1irelateddevelopmentalandepilepticencephalopathy |