Epilepsy and paroxysmal conditions

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Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases. But clinical presentation also includes refractory neonatal seizures, Ohtahara syndrome, infantile spasms and progressive myoclonic epilepsy. Clinical manifestations seems to be similar in different etiology and in majority of cases look like unspecific epileptic encephalopathy. Selected treatable inborn errors of metabolism are discussed alongside with diagnostic approach to inherited metabolic epilepsies. Probably it’s better to avoid the treatment with valproic acid in clinical situations when etiology is unclear. Alternative use of levetiracetam is recommended. Besides the antiepileptic drugs we can also make pyridoxine, pyridoxal-5-phosphate and folinic acid consequent trials for 3-5 days before our diagnostic quest succeed.

About the Author

E. D. Belousova
The Russian National Research Medical University named after N. I. Pirogov of the Ministry of Health of the Russian Federation, Moscow
Russian Federation

MD, Professor, Honored Doctor of the Russian Federation. Department psychoneurology Epileptology and Research Clinical Institute of the Russian National Research Medical University named after N. I. Pirogov. Address: ul. Ostrovityanova, 1, Moscow, Russia, 117997. Tel.: +7(499)4833086


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For citations:

Belousova E.D. EPILEPSY IN INBORN ERRORS OF METABOLISM. Epilepsy and paroxysmal conditions. 2016;8(1):55-61. (In Russ.)

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