Epilepsy and paroxysmal conditions

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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


1. Hereditary diseases: national leadership. Ed. NP Bochkov, EK Ginter, VP Puzyrev [Nasledstvennye bolezni: natsional’noe rukovodstvo. Pod red. N.P. Bochkova, E.K. Gintera, V.P. Puzyreva (in Russian)]. Moscow. 2013; 936 s.

2. Mukhin K.Yu., Petrukhin A.S., Kholin A.A. Epileptic encephalopathy in hereditary diseases and chromosomal abnormalities. Epileptic encephalopathies and similar syndromes in children [Epilepticheskie entsefalopatii pri nasledstvennykh zabolevaniyakh i khromosomnykh anomaliyakh. Epilepticheskie entsefalopatii i skhozhie sindromy u detei (in Russian)]. Moscow. 2011; 427-676.

3. Belousova E.D. Nevrologiya, neiropsikhiatriya, psikhosomatika (in Russian). 2014; Spetsvypusk 1: 4-8.

4. Bahi-Buisson N., Dulac O. Epilepsy in inborn errors of metabolism. Hand Clin Neurol. 2013; 111: 533-41.

5. Illarioshkin S.N. Algoritm diagnostiki mitokhondrial’nykh entsefalomiopatii. Atmosfera. Nervnye bolezni (in Russian). 2007; 3: 23-27.


For citations:

Malov A.G. THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY. Epilepsy and paroxysmal conditions. 2017;9(4):31-34. (In Russ.)

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