Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press28210.17650/2222-8721-2018-8-2-42-52ORIGINAL REPORTSОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯEarly epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patientsКлинико-генетические характеристики ранней эпилептической энцефалопатии II типа, обусловленной мутациями в гене SCN2Ahttps://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation

1 Moskvorech’e St., Moscow 115478; 1 Ostrovityanova St., Moscow 117997

115478 Москва, ул. Москворечье, 1; 117997 Москва, ул. Островитянова, 1 

https://orcid.org/0000-0001-6414-436XKonovalovF. A.КоноваловФ. А.
Russian Federation

Build. 5, 8 Podol’skое Shosse, Moscow 115093

115093 Москва, Подольское шоссе, 8, корп. 5

https://orcid.org/0000-0002-9092-6581AkimovaI. A.АкимоваИ. А.
Russian Federation

1 Moskvorech’e St., Moscow 115478

Ирина Алексеевна Акимова

115478 Москва, ул. Москворечье, 1 dy> �д. Ю.Е. Вельтищева

akimova@med-gen.ruhttps://orcid.org/0000-0002-0980-2638SharkovA. A.ШарковА. А.
Russian Federation

Yu.Е. Veltischev Research and Clinical Institute of Pediatrics 

Build. 5, 8 Podol’skое Shosse, Moscow 115093; 2 Taldomskaya St., Moscow 125412

Научно-исследовательский клинический институт педиатрии им. акад. Ю.Е. Вельтищева РНИМУ им. Н.И. Пирогова

115093 Москва, Подольское шоссе, 8, корп. 5; 125412 Москва, ул. Талдомская, 2 

https://orcid.org/0000-0002-8949-0581RudenskayaG. E.РуденскаяГ. Е.
Russian Federation

1 Moskvorech’e St., Moscow 115478

115478 Москва, ул. Москворечье, 1

MikhaylovaS. V.МихайловаС. В.
Russian Federation

1 Ostrovityanova St., Moscow 117997

117997 Москва, ул. Островитянова, 1

https://orcid.org/0000-0002-3816-8031KorostelevS. A.КоростелевС. А.
Russian Federation

Build. 5, 8 Podol’skое Shosse, Moscow 115093

115093 Москва, Подольское шоссе, 8, корп. 5

Research Center of Medical GeneticsФБГНУ «Медико-генетический научный центр»N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииGenomedООО «Геномед»200720188242522007201820072018Copyright ©; 2018, Dadali E.L., Konovalov F.A., Akimova I.A., Sharkov A.A., Rudenskaya G.E., Mikhaylova S.V., Korostelev S.A.Copyright ©; 2018, Дадали Е.Л., Коновалов Ф.А., Акимова И.А., Шарков А.А., Руденская Г.Е., Михайлова С.В., Коростелев С.А.2018Dadali E.L., Konovalov F.A., Akimova I.A., Sharkov A.A., Rudenskaya G.E., Mikhaylova S.V., Korostelev S.A.Дадали Е.Л., Коновалов Ф.А., Акимова И.А., Шарков А.А., Руденская Г.Е., Михайлова С.В., Коростелев С.А.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/282

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