THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY


https://doi.org/10.17749/2077-8333.2017.9.4.031-034

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Abstract

The currently accepted approaches to clinical and para-clinical diagnosis of hereditary forms of epilepsy are reviewed. The optimal methods for laboratory confirmation of epilepsy are: in the case of suspected chromosome pathology – the chromosomal microarray analysis; in the case of a disease with a suspected nuclear DNA mutation – the epilepsyassociated gene panel exome sequencing of nuclear DNA; and in the case of a disease suspected for a mitochondrial mutation – the mitochondrial DNA sequencing.

About the Author

A. G. Malov
Perm National State Medical University Named after academic E.A. Wagner of the Ministry of Healthcare of the Russian Federation
Russian Federation

Malov Aleksandr Germanovich – MD, PhD, Doct.Med.Sci., Neurologist, Associate Professor at the Department of neurology, Faculty of pediatrics.

Ul. Petropavlovskaya, 26, Permskii krai, Perm, 614990


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Supplementary files

For citation: Malov A.G. THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY. Epilepsia and paroxyzmal conditions. 2017;9(4):31-34. https://doi.org/10.17749/2077-8333.2017.9.4.031-034

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