Severe KCNT1-related developmental and epileptic encephalopathy
https://doi.org/10.17749/2077-8333/epi.par.con.2025.221
Abstract
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.
About the Authors
A. G. Malov
Vagner Perm State Medical University
Russian Federation
Russian Federation
Aleksandr G. Malov, Dr. Sci. Med., Assoc. Prof.
26 Petropavlovskaya Str., Perm 614000
L. Yu. Brokhin
Koryukina Children's Clinical Hospital No. 3
Russian Federation
Russian Federation
Leonid Yu. Brokhin
13 Lenin Str., Perm 614000
A. V. Veselkova
Pichugin Children's Clinical Hospital
Russian Federation
Russian Federation
Angelina V. Veselkova
43 Komsomolsky Ave, Perm 614000
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Review
For citations:
Malov A.G., Brokhin L.Yu., Veselkova A.V. Severe KCNT1-related developmental and epileptic encephalopathy. Epilepsy and paroxysmal conditions. 2025;17(2):182-188. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2025.221
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