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| Vol 20, No 1 (2025) |
Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case |
Abstract
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M. S. Maslov, A. M. Sviridova, M. A. Zalevskaya |
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| Vol 20, No 1 (2025) |
Pharmacoresistant course of idiopathic generalized epilepsy or concomitant pathology: a clinical case |
Abstract
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A. I. Paramonova, I. M. Demyanova, A. A. Vasilyeva, A. V. Palachanina, D. V. Dmitrenko |
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| Vol 19, No 4 (2024) |
Intellectual development disorder syndrome with congenital anomalies of type 99, faceted female (OMIM: 300968), updated mutation in the USP9X gene |
Abstract
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A. Sh. Latypov, E. V. Proskurin, O. P. Sidorova, I. A. Vasilenko, D. V. Kassina, M. S. Bunak |
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| Vol 19, No 4 (2024) |
Moya-moya disease in a child with nephropatic cystinosis: a case report and literature review |
Abstract
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A. M. Pivovarova, S. V. Papizh, D. O. Kаzakov, K. Z. Gorchkhanovа, I. A. Melnikov |
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| Vol 19, No 3 (2024) |
The case of development and epileptic encephalopathy with spike-wave activation in sleep in a boy with Smith–Magenis syndrome |
Abstract
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M. Yu. Bobylova, M. O. Аbramov, O. A. Pylaeva, K. Yu. Мukhin, A. S. Petrukhin |
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| Vol 19, No 3 (2024) |
First experience of botulinum toxin type A therapy in Russia in comprehensive therapy for Wilson–Konovalov disease diagnosed at the age of 12 years |
Abstract
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D. A. Krasavina, D. O. Ivanov, O. R. Orlova, V. K. Valiev, O. N. Vasilyeva |
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| Vol 19, No 3 (2024) |
Effects of Longidase® on skeletal muscles in children with cerebral palsy |
Abstract
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D. A. Krasavina, D. O. Ivanov, O. R. Orlova, V. K. Valiev |
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| Vol 19, No 2 (2024) |
Pontocerebellar hypoplasia caused by the TSEN54 mutation: clinical and electroencephalographic characteristics based on 3 cases |
Abstract
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M. Yu. Bobylova, M. O. Abramov, K. Yu. Mukhin |
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| Vol 19, No 2 (2024) |
Local intracerebral form of diffuse leptomeningeal glioneuronal tumor – a new entity of the group of epileptogenic neoplasms? |
Abstract
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V. S. Khalilov, A. N. Kislyakov, A. A. Kholin, U. A. Kukota, N. A. Medvedeva, A. S. Shapovalov, A. E. Druy |
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| Vol 19, No 2 (2024) |
Mitochondrial DNA depletion syndrome 13. A case report |
Abstract
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G. S. Golosnaya, O. N. Krasnorutskaya, N. A. Ermolenko, V. L. Efimova, T. A. Larionova, D. M. Subbotin, D. A. Feklistov, M. D. Tysyachina |
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| Vol 19, No 1 (2024) |
Pharmacoresistant epilepsy with electrical status epilepticus during slow-wave sleep: a clinical case |
Abstract
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M. S. Maslov |
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| Vol 19, No 1 (2024) |
Epilepsy and congenital cerebral palsy: Parallels between the location of genome anomalies and clinical manifestations |
Abstract
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P. L. Sokolov, N. V. Chebanenko, Yu. A. Fedotova, D. M. Mednaya |
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| Vol 19, No 1 (2024) |
Wernicke encephalopathy in combination with acute polyneuropathy under the guise of a demyelinating disease in a teenager with an eating disorder |
Abstract
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E. O. Ovchinnikova, A. S. Kotov, M. V. Panteleeva, E. V. Mukhina |
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| Vol 18, No 4 (2023) |
Subacute combined degeneration of the spinal cord of toxic etiology (clinical case) |
Abstract
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A. A. Kondratov, A. S. Kotov |
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| Vol 18, No 4 (2023) |
An acute hemorrhagic leukoencephalitis (clinical case) |
Abstract
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Е. А. Kulish, V. М. Frolova |
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| Vol 18, No 4 (2023) |
Mitochondrial disorders in patients with familial form of MERRF syndrome |
Abstract
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A. Sh. Latypov, E. V. Proskurina, S. V. Kotov, O. P. Sidorova, I. A. Vasilenko, D. V. Kassina, A. S. Kotov |
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| Vol 18, No 2-3 (2023) |
Anti-GAD encephalitis in a child with beta-thalassemia after allogeneic hematopoietic stem cell transplantation |
Abstract
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N. V. Bronina, I. O. Schederkina, B. M. Kurmanov, E. A. Burtsev, M. V. Natrusova, G. O. Bronin |
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| Vol 18, No 1 (2023) |
Idiopathic autoimmune encephalitis with a recurrent course. A case report |
Abstract
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A. B. Davletova, A. Yu. Ryabchenko |
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| Vol 18, No 1 (2023) |
The role of the ketogenic diet in patients with epilepsy. A brief literary review and a clinical example |
Abstract
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M. Yu. Bobylova, E. I. Novyachkova, K. S. Romanovskaya, L. N. Mukhina, K. Yu. Mukhin |
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| Vol 18, No 1 (2023) |
CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy: a case report |
Abstract
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G. S. Golosnaya, N. A. Ermolenko, O. N. Krasnorutskaya, V. L. Efimova, T. A. Larionova, M. D. Tysyachina |
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| Vol 17, No 3 (2022) |
Citrullinemia in a newborn: a case report |
Abstract
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G. S. Golosnaya, T. N. Belousova, M. Yu. Novikov, N. Yu. Knyazeva, D. Yu. Podkopaev, E. G. Trifonova, A. I. Makulova, Ya. Ya. Ginen, Z. A. Kozheurova, D. A. Kholichev, D. A. Politov, P. V. Baranova, N. A. Ermolenko, O. N. Krasnorutskaya, E. Ya. Kaledina, G. P. Tukabaev, A. V. Ogurtsov, K. A. Seleznev |
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| Vol 17, No 3 (2022) |
Dystonia type 28 with early onset (DYT-KMT2B): a clinical case |
Abstract
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V. A. Bulanova, M. A. Bykanova, N. А. Kuleva |
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| Vol 17, No 2 (2022) |
Epileptic encephalopathy caused by 1p36 deletion: literature review and case series |
Abstract
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M. Yu. Bobylova, O. V. Konurina, N. A. Borovikova, V. A. Chadaev |
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| Vol 17, No 2 (2022) |
Ischemic stroke in a pediatric patient: complication of the course of COVID-19 (clinical case and literature review) |
Abstract
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A. M. Shchetinina, V. P. Ivanov, A. V. Kim, G. G. Ivanova, V. A. Malko, T. M. Alekseeva |
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| Vol 17, No 2 (2022) |
Jacobsen syndrome. Literature review and a case report |
Abstract
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A. V. Syrkina, N. V. Chebanenko, V. P. Zykov, N. S. Mikhailova |
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