Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case | Kozhanova | Epilepsy and paroxysmal conditions

Epilepsy and paroxysmal conditions
Èpilepsiâ i paroksizmalʹnye sostoâniâ

eng | рус

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

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Epilepsy and paroxysmal conditions

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Kozhanova T.V., Zhilina S.S., Mescheryakova T.I., Lukyanova E.G., Osipova K.V., Ayvazyan S.O., Prityko A.G. Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case. Epilepsy and paroxysmal conditions. 2019;11(1):70-78. (In Russ.) https://doi.org/10.17749/2077-8333.2019.11.1.70-78

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

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About the Authors

T. V. Kozhanova
St. Luka’s Clinical Research Center for Children Pirogov Russian National Research Medical University
Russian Federation

MD, PhD, Researcher at the Genetic Group of the Scientific Department, Laboratory Geneticist

38, Aviatorov Str., Moscow 119620, Russia

1 Ostrovityanova Str., Moscow 117997, Russia

S. S. Zhilina
St. Luka’s Clinical Research Center for Children Pirogov Russian National Research Medical University
Russian Federation

MD, PhD, Leading Researcher at the Genetic Group of the Scientific Department, Medical Geneticist

38, Aviatorov Str., Moscow 119620, Russia

1 Ostrovityanova Str., Moscow 117997, Russia

T. I. Mescheryakova
St. Luka’s Clinical Research Center for Children
Russian Federation

MD, PhD, Leading Researcher at the Genetic Group of the Scientific Department, Medical Geneticist

38, Aviatorov Str., Moscow 119620, Russia

E. G. Lukyanova
St. Luka’s Clinical Research Center for Children
Russian Federation

MD, Neurologist

38, Aviatorov Str., Moscow 119620, Russia

K. V. Osipova
St. Luka’s Clinical Research Center for Children
Russian Federation

MD, PhD, Head, Department of Psychoneurology

38, Aviatorov Str., Moscow 119620, Russia

S. O. Ayvazyan
St. Luka’s Clinical Research Center for Children
Russian Federation

MD, PhD, Head, Scientific Group for Studies on Resistant Epilepsy

38, Aviatorov Str., Moscow 119620, Russia

A. G. Prityko
St. Luka’s Clinical Research Center for Children Pirogov Russian National Research Medical University
Russian Federation

МD, PhD, Professor, Member of the Russian Academy of Natural Sciences, Director

38, Aviatorov Str., Moscow 119620, Russia

1 Ostrovityanova Str., Moscow 117997, Russia

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