Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients

Authors: Dadali E.L.¹^,2, Konovalov F.A.³, Akimova I.A.¹, Sharkov A.A.³^,2, Rudenskaya G.E.¹, Mikhaylova S.V.², Korostelev S.A.³
Affiliations:
1. Research Center of Medical Genetics
2. N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
3. Genomed
Issue: Vol 8, No 2 (2018)
Pages: 42-52
Section: ORIGINAL REPORTS
Published: 20.07.2018
URL: https://nmb.abvpress.ru/jour/article/view/282
DOI: https://doi.org/10.17650/2222-8721-2018-8-2-42-52
ID: 282

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II type early epileptic encephalopathy, seizures, gene SCN2A

Research Center of Medical Genetics;
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0001-5602-2805
1 Moskvorech’e St., Moscow 115478; 1 Ostrovityanova St., Moscow 117997 Russian Federation

Genomed

Email: fake@neicon.ru
ORCID iD: 0000-0001-6414-436X
Build. 5, 8 Podol’skое Shosse, Moscow 115093 Russian Federation

Research Center of Medical Genetics

Author for correspondence.
Email: akimova@med-gen.ru
ORCID iD: 0000-0002-9092-6581
1 Moskvorech’e St., Moscow 115478 Russian Federation

Genomed;
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Yu.Е. Veltischev Research and Clinical Institute of Pediatrics

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

Russian Federation

Research Center of Medical Genetics

Email: fake@neicon.ru
ORCID iD: 0000-0002-8949-0581
1 Moskvorech’e St., Moscow 115478 Russian Federation

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
1 Ostrovityanova St., Moscow 117997 Russian Federation

Genomed

Email: fake@neicon.ru
ORCID iD: 0000-0002-3816-8031
Build. 5, 8 Podol’skое Shosse, Moscow 115093 Russian Federation

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