Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case
T. V. Kozhanova,
S. S. Zhilina,
T. I. Mescheryakova,
E. G. Lukyanova,
K. V. Osipova,
S. O. Ayvazyan,
A. G. Prityko Abstract
The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay. The examination included a phenotypic analysis: the course of the perinatal period, the nature of seizures, cognitive and behavioral disorders; video electroencephalography, and brain MRI. Using the targeted exome sequencing of genes associated with epileptic encephalopathy (NGS), we detected a nucleotide heterozygous variant of the ALDH7A1 gene (previously not described). This mutation led to the appearance of a stop codon in position 82 of the protein p.Arg82Ter and the amino acid substitution in position 399 of the protein p.Glu399Gln. This clinical observation demonstrates the importance of DNA-based diagnosis involving the targeted exome sequencing to identify molecular defects, especially in severe neonatal drug-resistant seizures. In the case of confirmed mutations in the ALDH7A1 gene, the patient should be given vitamin B6 at the therapeutic doses for seizure relief.
About the Authors
T. V. Kozhanova
St. Luka’s Clinical Research Center for Children
Pirogov Russian National Research Medical University
Russian Federation
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
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
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
Russian Federation
MD, Neurologist
38, Aviatorov Str., Moscow 119620, Russia
K. V. Osipova
St. Luka’s Clinical Research Center for Children
Russian Federation
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
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
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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Review
For citations:
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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