epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333/epi.par.con.2023.171epilepsia-962Research ArticleCLINICAL CASESКЛИНИЧЕСКИЕ СЛУЧАИClinical features of developmental and epileptic encephalopathy caused by KCNQ2 gene mutationКлинические особенности эволюционной и эпилептической энцефалопатии, вызванной мутацией в гене KCNQ2https://orcid.org/0000-0002-2946-9158МаловА. Г.MalovА. G.

Малов Александр Германович – д.м.н., доцент кафедры неврологии и медицинской генетики

ул. Петропавловская, д. 26, Пермь, 614000

Aleksandr G. Malov – Dr. Med. Sc., Associate Professor, Chair of Neurology and Medical Genetics

26 Petropavlovskaya Str., Perm, 614000

malovag1959@mail.ruhttps://orcid.org/0000-0002-3637-6902КалашниковаТ. П.KalashnikovaТ. P.

Калашникова Татьяна Павловна – д.м.н., профессор кафедры неврологии и медицинской генетики 

ул. Петропавловская, д. 26, Пермь, 614000

Tatiana P. Kalashnikova – Dr. Med. Sc., Professor, Chair of Neurology and Medical Genetics

26 Petropavlovskaya Str., Perm, 614000

ВдовинаН. А.VdovinaN. А.

Вдовина Наталья Анатольевна – врач-невролог отделения неврологии 

ул. Героев Хасана, д. 10А, Пермь, 614010

Natalia A. Vdovina – Neurologist, Department of Neurology

10А Khasan Heroes Str., Perm, 614010

Федеральное государственное бюджетное образовательное учреждение высшего образования «Пермский государственный медицинский университет им. академика Е.А. Вагнера» Министерства здравоохранения Российской ФедерацииРоссияVagner Perm State Medical UniversityRussian FederationГосударственное бюджетное учреждение здравоохранения Пермского края «Детская клиническая больница им. П.И. Пичугина»РоссияPichugin Children Clinical HospitalRussian Federation202322122023154354360Copyright © Malov А.G., Kalashnikova Т.P., Vdovina N.А., 20232023Малов А.Г., Калашникова Т.П., Вдовина Н.А.Malov А.G., Kalashnikova Т.P., Vdovina N.А.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.epilepsia.su/jour/article/view/962

Current classification of epileptic syndromes proposed in 2022 by the International League Against Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene is identified as an independent nosological form. Alternative names for this disease are DEE type 7 or early infantile epileptic encephalopathy type 7 (OMIM: 613720). The article presents a brief literature review on the topic as well as our personal clinical observation of this rare pathology.

В современной классификации эпилептических синдромов, предложенной Международной Противоэпилептической Лигой в 2022 г., эволюционная и эпилептическая энцефалопатия (англ. developmental and epileptic encephalopathy, DEE), вызванная мутацией в гене KCNQ2, выделена в качестве самостоятельной нозологической формы. Альтернативные названия этого заболевания: DEE 7-го типа или ранняя инфантильная эпилептическая энцефалопатия 7-го типа (OMIM: 613720). В статье представлен краткий обзор литературы по данной теме, а также приведено собственное клиническое наблюдение этой редкой патологии.

Мутация в гене KCNQ2эволюционная и эпилептическая энцефалопатияранняя инфантильная эпилептическая энцефалопатия 7-го типаKCNQ2 mutationdevelopmental and epileptic encephalopathyDEEearly infantile epileptic encephalopathy type 7EIEE7ReferencesOMIM ® . An Online Catalog of Human Genes and Genetic Disorders. URL: https://omim.org (дата обращения 28.09.2023).OMIM ®. An Online Catalog of Human Genes and Genetic Disorders. Available at: https://omim.org (accessed 28.09.2023).Biervert C., Schroeder B.C., Kubisch C., et al. A potassium channel mutation in neonatal human epilepsy. Science. 1998; 279 (5349): 403–6. https://doi.org/10.1126/science.279.5349.403.Biervert C., Schroeder B.C., Kubisch C., et al. A potassium channel mutation in neonatal human epilepsy. Science. 1998; 279 (5349): 403–6. https://doi.org/10.1126/science.279.5349.403.Borgatti R., Zucca C., Cavallini A. et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology. 2004; 63 (1): 57–65. https://doi.org/10.1212/01.wnl.0000132979.08394.6d.Borgatti R., Zucca C., Cavallini A. et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology. 2004; 63 (1): 57–65. https://doi.org/10.1212/01.wnl.0000132979.08394.6d.Saitsu H., Kato M., Koide A., et al. Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol. 2012; 72 (2): 298–300. https://doi.org/10.1002/ana.23620.Saitsu H., Kato M., Koide A., et al. Whole exome sequencing identifiesKCNQ2 mutations in Ohtahara syndrome. Ann Neurol. 2012; 72 (2): 298–300. https://doi.org/10.1002/ana.23620.Zuberi S.M., Wirrell E., Yozawitz E., et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63 (6): 1349–97. https://doi.org/10.1111/epi.17239.Zuberi S.M., Wirrell E., Yozawitz E., et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63 (6): 1349–97. https://doi.org/10.1111/epi.17239.Блинов Д.В. Эпилептические синдромы: определение и классификация Международной Противоэпилептической Лиги 2022 года. Эпилепсия и пароксизмальные состояния. 2022; 14 (2): 101–82. https://doi.org/10.17749/2077-8333/epi.par.con.2022.123.Blinov D.V. Epilepsy syndromes: the 2022 ILAE definition and classification. Epilepsia i paroksizmalʹnye sostoania / Epilepsy and Paroxysmal Conditions. 2022; 14 (2): 101–82 (in Russ.). https://doi.org/10.17749/2077-8333/epi.par.con.2022.123.Dedek K., Fusco L., Teloy N., Steinlein O.K. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res. 2003; 54 (1): 21–7. https://doi.org/10.1016/s0920-1211(03)00037-8.Dedek K., Fusco L., Teloy N., Steinlein O.K. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res. 2003; 54 (1): 21–7. https://doi.org/10.1016/s0920-1211(03)00037-8.Weckhuysen S., Mandelstam S., Suls A., et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012; 71 (1): 15–25. https://doi.org/10.1002/ana.22644.Weckhuysen S., Mandelstam S., Suls A., et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012; 71 (1): 15–25. https://doi.org/10.1002/ana.22644.Berg A.T., Mahida S., Poduri A. KCNQ2-DEE: developmental or epileptic encephalopathy? Ann Clin Transl Neurol. 2021; 8 (3): 666–76. https://doi.org/.1002/acn3.51316.Berg A.T., Mahida S., Poduri A. KCNQ2-DEE: developmental or epileptic encephalopathy? Ann Clin Transl Neurol. 2021; 8 (3): 666–76. https://doi.org/.1002/acn3.51316.Cossu A., Lo Barco T., Proietti J., et al. Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: results from a family-driven survey. Epilepsy Behav. 2023; 142: 109153. https://doi.org/10.1016/j.yebeh.2023.109153.Cossu A., Lo Barco T., Proietti J., et al. Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: results from a family-driven survey. Epilepsy Behav. 2023; 142: 109153. https://doi.org/10.1016/j.yebeh.2023.109153.Legros L., Adle-Biassette H., Dozières-Puyravel B., et al. Neuropathology findings in KCNQ2 neonatal epileptic encephalopathy. Seizure. 2022; 99: 36–9. https://doi.org/10.1016/j.seizure.2022.05.008.Legros L., Adle-Biassette H., Dozières-Puyravel B., et al. Neuropathology findings in KCNQ2 neonatal epileptic encephalopathy. Seizure. 2022; 99: 36–9. https://doi.org/10.1016/j.seizure.2022.05.008.Kato M., Yamagata T., Kubota M., et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia. 2013; 54 (7): 1282–7. https://doi.org/10.1111/epi.12200.Kato M., Yamagata T., Kubota M., et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia. 2013; 54 (7): 1282–7. https://doi.org/10.1111/epi.12200.Chokvithaya S., Caengprasath N., Buasong A., et al. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. Sci Rep. 2023; 13 (1): 3328. https://doi.org/10.1038/s41598-023-29924-y.Chokvithaya S., Caengprasath N., Buasong A., et al. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. Sci Rep. 2023; 13 (1): 3328. https://doi.org/10.1038/s41598-023-29924-y.Miceli F., Millevert C., Soldovieri M.V., et al. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine. 2022; 81: 104130. https://doi.org/10.1016/j.ebiom.2022.104130.Miceli F., Millevert C., Soldovieri M.V., et al. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine. 2022; 81: 104130. https://doi.org/10.1016/j.ebiom.2022.104130.Soldovieri M.V., Freri E., Ambrosino P., et al. Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy. Pharmacol Res. 2020; 160: 105200. https://doi.org/10.1016/j.phrs.2020.105200.Soldovieri M.V., Freri E., Ambrosino P., et al. Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy. Pharmacol Res. 2020; 160: 105200. https://doi.org/10.1016/j.phrs.2020.105200.Borggraefe I., Wagner M. Precision therapy in KCNQ2-related epilepsy. Neuropediatrics. 2023; 54 (5): 295–6. https://doi.org/10.1055/s-0043-1772667.Borggraefe I., Wagner M. Precision therapy in KCNQ2-related epilepsy. Neuropediatrics. 2023; 54 (5): 295–6. https://doi.org/10.1055/s-0043-1772667.Zimmern V., Minassian B., Korff C. A review of targeted therapies for monogenic epilepsy syndromes. Front Neurol. 2022; 13: 829116. https://doi.org/10.3389/fneur.2022.829116.Zimmern V., Minassian B., Korff C. A review of targeted therapies for monogenic epilepsy syndromes. Front Neurol. 2022; 13: 829116. https://doi.org/10.3389/fneur.2022.829116.

The authors declare that there are no conflicts of interest present.