Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation

A. A. Kholin; I. D. Fedonyuk; O. P. Dovelman; N. N. Zavadenko; T. V. Kozhanova; E. A. Kholina; G. Sh. Khondkarian; E. S. Il`ina

Epilepsy and paroxysmal conditions
Èpilepsiâ i paroksizmalʹnye sostoâniâ

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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)

Epilepsy and paroxysmal conditions

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Kholin A.A., Fedonyuk I.D., Dovelman O.P., Zavadenko N.N., Kozhanova T.V., Kholina E.A., Khondkarian G.S., Il`ina E.S. Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation. Epilepsy and paroxysmal conditions. 2019;11(4):321-334. (In Russ.) https://doi.org/10.17749/2077-8333.2019.11.4.321-334

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)

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About the Authors

A. A. Kholin
Pirogov Russian National Research Medical University; Russian Children Clinical Hospital of Pirogov Russian National Research Medical University
Russian Federation

Alexey A. Kholin – MD, PhD, Professor at the Badalyan Department of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics

I. D. Fedonyuk
Russian Children Clinical Hospital of Pirogov Russian National Research Medical University
Russian Federation

Inessa D. Fedonyuk – MD, PhD, Neurologist at the Department of Psychoneurology №2, Children’s Clinical Hospital

O. P. Dovelman
Children’s city polyclinic of Novorossiysk
Russian Federation

Oleg P. Dovelman – MD, PhD, Neurologist

N. N. Zavadenko
Pirogov Russian National Research Medical University
Russian Federation

Nikolay N. Zavadenko – MD, PhD, Professor & Head, Badalyan Department of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics

T. V. Kozhanova
Pirogov Russian National Research Medical University; Genetic Laboratory Closed joint-stock company (CJSC) “Genoanalytic”
Russian Federation

Tatyana V. Kozhanova – MD, PhD, Researcher, Genetic Division, Department of Science; Geneticist, St. Luka’s Clinical Research Center for Children; Associate professor at the Department of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics

E. A. Kholina
Pirogov Russian National Research Medical University
Russian Federation

Elena A. Kholina – Laboratory Assistant at the Bad alyan Department of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics

G. Sh. Khondkarian
Pirogov Russian National Research Medical University
Russian Federation

Gareguin Sh. Khondkaryan – MD, PhD, Professor at the Badalyan Department of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics

E. S. Il`ina
Pirogov Russian National Research Medical University; Russian Children Clinical Hospital of Pirogov Russian National Research Medical University
Russian Federation

Elena S. Il`ina – MD, PhD, Head of the Department of Psychoneurology №2, Children’s Clinical Hospital

ORCID ID: https://orcid.org/0000-0002-5469-605X

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Epilepsy and paroxysmal conditions

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