CLINICAL OBSERVATIONS

Issue Title File
Vol 20, No 2 (2025) Phenobarbital in HECW2-associated epileptic encephalopathy: unexpected clinical efficacy PDF
(Rus)
Batyrov M.A., Per Н., Mamytova E.M., Nurbekova U.A.
Vol 20, No 1 (2025) Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case PDF
(Rus)
Maslov M.S., Sviridova A.M., Zalevskaya M.A.
Vol 20, No 1 (2025) Pharmacoresistant course of idiopathic generalized epilepsy or concomitant pathology: a clinical case PDF
(Rus)
Paramonova A.I., Demyanova I.M., Vasilyeva A.A., Palachanina A.V., Dmitrenko D.V.
Vol 19, No 4 (2024) Moya-moya disease in a child with nephropatic cystinosis: a case report and literature review PDF
(Rus)
Pivovarova A.M., Papizh S.V., Kаzakov D.O., Gorchkhanovа K.Z., Melnikov I.A.
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 PDF
(Rus)
Latypov A.S., Proskurin E.V., Sidorova O.P., Vasilenko I.A., Kassina D.V., Bunak M.S.
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 PDF
(Rus)
Bobylova M.Y., Аbramov M.O., Pylaeva O.A., Мukhin K.Y., Petrukhin A.S.
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 PDF
(Rus)
Krasavina D.A., Ivanov D.O., Orlova O.R., Valiev V.K., Vasilyeva O.N.
Vol 19, No 3 (2024) Effects of Longidase® on skeletal muscles in children with cerebral palsy PDF
(Rus)
Krasavina D.A., Ivanov D.O., Orlova O.R., Valiev V.K.
Vol 19, No 2 (2024) Pontocerebellar hypoplasia caused by the TSEN54 mutation: clinical and electroencephalographic characteristics based on 3 cases PDF
(Rus)
Bobylova M.Y., Abramov M.O., Mukhin K.Y.
Vol 19, No 2 (2024) Local intracerebral form of diffuse leptomeningeal glioneuronal tumor – a new entity of the group of epileptogenic neoplasms? PDF
(Rus)
Khalilov V.S., Kislyakov A.N., Kholin A.A., Kukota U.A., Medvedeva N.A., Shapovalov A.S., Druy A.E.
Vol 19, No 2 (2024) Mitochondrial DNA depletion syndrome 13. A case report PDF
(Rus)
Golosnaya G.S., Krasnorutskaya O.N., Ermolenko N.A., Efimova V.L., Larionova T.A., Subbotin D.M., Feklistov D.A., Tysyachina M.D.
Vol 19, No 1 (2024) Pharmacoresistant epilepsy with electrical status epilepticus during slow-wave sleep: a clinical case PDF
(Rus)
Maslov M.S.
Vol 19, No 1 (2024) Epilepsy and congenital cerebral palsy: Parallels between the location of genome anomalies and clinical manifestations PDF
(Rus)
Sokolov P.L., Chebanenko N.V., Fedotova Y.A., Mednaya D.M.
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 PDF
(Rus)
Ovchinnikova E.O., Kotov A.S., Panteleeva M.V., Mukhina E.V.
Vol 18, No 4 (2023) Subacute combined degeneration of the spinal cord of toxic etiology (clinical case) PDF
(Rus)
Kondratov A.A., Kotov A.S.
Vol 18, No 4 (2023) An acute hemorrhagic leukoencephalitis (clinical case) PDF
(Rus)
Kulish Е.А., Frolova V.М.
Vol 18, No 4 (2023) Mitochondrial disorders in patients with familial form of MERRF syndrome PDF
(Rus)
Latypov A.S., Proskurina E.V., Kotov S.V., Sidorova O.P., Vasilenko I.A., Kassina D.V., Kotov A.S.
Vol 18, No 2-3 (2023) Anti-GAD encephalitis in a child with beta-thalassemia after allogeneic hematopoietic stem cell transplantation PDF
(Rus)
Bronina N.V., Schederkina I.O., Kurmanov B.M., Burtsev E.A., Natrusova M.V., Bronin G.O.
Vol 18, No 1 (2023) CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy: a case report PDF
(Rus)
Golosnaya G.S., Ermolenko N.A., Krasnorutskaya O.N., Efimova V.L., Larionova T.A., Tysyachina M.D.
Vol 18, No 1 (2023) Idiopathic autoimmune encephalitis with a recurrent course. A case report PDF
(Rus)
Davletova A.B., Ryabchenko A.Y.
Vol 18, No 1 (2023) The role of the ketogenic diet in patients with epilepsy. A brief literary review and a clinical example PDF
(Rus)
Bobylova M.Y., Novyachkova E.I., Romanovskaya K.S., Mukhina L.N., Mukhin K.Y.
Vol 17, No 3 (2022) Citrullinemia in a newborn: a case report PDF
(Rus)
Golosnaya G.S., Belousova T.N., Novikov M.Y., Knyazeva N.Y., Podkopaev D.Y., Trifonova E.G., Makulova A.I., Ginen Y.Y., Kozheurova Z.A., Kholichev D.A., Politov D.A., Baranova P.V., Ermolenko N.A., Krasnorutskaya O.N., Kaledina E.Y., Tukabaev G.P., Ogurtsov A.V., Seleznev K.A.
Vol 17, No 3 (2022) Dystonia type 28 with early onset (DYT-KMT2B): a clinical case PDF
(Rus)
Bulanova V.A., Bykanova M.A., Kuleva N.А.
Vol 17, No 2 (2022) Epileptic encephalopathy caused by 1p36 deletion: literature review and case series PDF
(Rus)
Bobylova M.Y., Konurina O.V., Borovikova N.A., Chadaev V.A.
Vol 17, No 2 (2022) Ischemic stroke in a pediatric patient: complication of the course of COVID-19 (clinical case and literature review) PDF
(Rus)
Shchetinina A.M., Ivanov V.P., Kim A.V., Ivanova G.G., Malko V.A., Alekseeva T.M.
Vol 17, No 2 (2022) Jacobsen syndrome. Literature review and a case report PDF
(Rus)
Syrkina A.V., Chebanenko N.V., Zykov V.P., Mikhailova N.S.
Vol 17, No 2 (2022) Perinatal stroke (a case report) PDF
(Rus)
Makeeva K.V., Makarova A.A., Usynina A.A.
Vol 16, No 4 (2021) West syndrome in patients with Kabuki syndrome (literature review and case report) PDF
(Rus)
Zhitomirskaya M.L., Snegova E.V., Odintsova G.V.
Vol 16, No 4 (2021) CADASIL syndrome and demyelination: dual pathology? (a case report) PDF
(Rus)
Shtang I.O., Kotov A.S.
Vol 16, No 4 (2021) Symptomatic non-convulsive status epilepticus in a patient with acute lymphoblastic leukemia (case report) PDF
(Rus)
Zakharova A.Y., Bobylova M.Y.
Vol 16, No 3 (2021) Experience with the use of a ketogenic diet with type 1 glucose transporter deficiency (De Vivo disease) PDF
(Rus)
Lyukshina N.G.
Vol 16, No 3 (2021) Leukoencephalopathy with vanishing white matter caused by EIF2B5 gene mutations: a case report PDF
(Rus)
Saifullina E.V., Gaysina E.V., Magzhanov R.V., Yalaev A.A., Nagornov I.O.
Vol 16, No 3 (2021) Pericallosal lipoma in an infant with fetal alcohol syndrome: a case report PDF
(Rus)
Golosnaya G.S., Novikov M.Y., Knyazeva N.Y., Volodina D.Y., Skobeltsyn A.A., Perepelov V.A., Ogurtsov A.V., Larionova T.A., Ledyaykina L.V., Seleznev K.A.
Vol 16, No 1-2 (2021) Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report PDF
(Rus)
Pavljuchkova A.I., Kotov A.S.
Vol 16, No 1-2 (2021) Continuous spike-and-wave activity during slow-wave sleep in patients with rett syndrome PDF
(Rus)
Kulikova S.L., Kozyreva I.V., Likhachev S.A., Bobylova M.Y.
Vol 16, No 1-2 (2021) Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report PDF
(Rus)
Lyukshina N.G., Sharkov A.A., Tolmacheva E.N.
Vol 15, No 3-4 (2020) A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations PDF
(Rus)
Bobylova M.Y., Abramov M.O., Kovalskaya A.V., Alikhanov A.A., Mukhin K.Y.
Vol 15, No 2 (2020) Difficulties of differential diagnostics of Guillain–Barré syndrome in children. The discussion of two clinical cases PDF
(Rus)
Kotov A.S., Mukhina E.V., Shatalin A.V., Panteleeva M.V., Bunak M.S.
Vol 15, No 2 (2020) Gaucher disease type 2 (case report) PDF
(Rus)
Shagieva D.R., Magzhanov R.V., Rakhmatullin A.R., Sayfullina E.V., Musin R.G.
Vol 15, No 1 (2020) Febrile infection-related epilepsy syndrome: long-term consequences (own observations) PDF
(Rus)
Drobitova A.V., Karas A.Y., Maslova N.V., Mukhin K.Y.
Vol 15, No 1 (2020) Clinical and electroencephalographic characteristics of neurodegeneration with brain iron accumulation type 5 in children on the example of 5 cases PDF
(Rus)
Perunova N.Y., Bobylova M.Y., Prygunova T.M.
Vol 14, No 4 (2019) Kleefstra syndrome and epilepsy PDF
(Rus)
Gamirova R.G., Lyukshina N.G., Gamirova R.R., Farnosova M.E.
Vol 14, No 4 (2019) The comorbidity of fetal alcohol syndrome and sleep apnea/hypopnea syndrome in a 7‑year-old girl (a clinical case) PDF
(Rus)
Yakovleva K.D., Alekseeva O.V., Shnayder N.A., Sidorenko D.R., Dmitrenko D.V.
Vol 14, No 2 (2019) Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report PDF
(Rus)
Lyukshina N.G.
Vol 14, No 2 (2019) The development of the expressive speech after surgery in Broca’s area in two-year-old child: а case report PDF
(Rus)
Moiseeva S.L., Hartlieb T., Winkler P., Kudernatsch M., Staudt M.
Vol 14, No 2 (2019) Benign infantile seizures associated with mild gastroenteritis: clinical and electroencephalographic characteristics PDF
(Rus)
Nogovitsyn V.Y., Bobylova .Y.
Vol 14, No 2 (2019) Glucose transporter deficiency syndrome type 1: a case report PDF
(Rus)
Kulish E.A., Kotov A.S., Mukhina E.V., Kotalevskaya Y.Y., Svetlichnaya D.V., Panteleeva M.V.
Vol 14, No 2 (2019) Difficulties of diagnostics of epilepsy due to molybdenum cofactor deficiency: a case report PDF
(Rus)
Malov A.G., Karakulova Y.V., Severino M., Kravtsov Y.I.
Vol 14, No 2 (2019) A rare case of Cohen syndrome and early infantile epileptic encephalopathy (type 52) in two-year-old girl PDF
(Rus)
Olshanskaya A.S., Dyuzhakova A.V., Shnayder N.A., Dmitrenko D.V.
Vol 14, No 1 (2019) Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1 PDF
(Rus)
Sharkova I.V., Akimova I.A., Khlebnikova O.V., Dadali E.L.
Vol 13, No 4 (2018) Epileptic trances – focal motor epileptic seizures: past, present and a little bit of future PDF
(Rus)
Chadaev V.A., Mukhin K.Y., Selezneva L.G., Nurmukhametova S.R., Alikhanov A.A., Mendelevich O.V., Vasilyev I.G., Glukhova L.Y., Nikitina M.S., Pylaeva O.A.
Vol 13, No 4 (2018) Mental disorders in children with intractable epilepsy as a manifestation of forced normalization of the electroencephalogram (Landolt syndrome) PDF
(Rus)
Gagara D.A., Evtushenko S.K.
Vol 13, No 1 (2018) Ophthalmople gic cranial neuropathy: clinical case PDF
(Rus)
Dozorova N.S., Kotov A.S., Mukhina E.V.
Vol 13, No 1 (2018) Problems of differential diagnosis of myoclon us-epilepsy associated with the mutation of the POLG gene and juvenile myoclonic epilepsy: a clinical case PDF
(Rus)
Shilkina O.S., Shnayder N.A., Artyukhov I.P., Moskaleva P.V., Panina Y.S.
Vol 12, No 4 (2017) Paroxysmal disorders in children receiving substitution therapy with vitamin B12 PDF
(Rus)
Barkhatov M.V., Falaleeva S.O., Shishkina E.V., Denisova Y.E., Borisova E.V., Krasitskiy A.I., Makarevskaya N.Y.
Vol 12, No 4 (2017) Schimmelpenning–Feuerstein–Mims syndrome (a case report) PDF
(Rus)
Ol’shanskaya A.S., Dyuzhakova A.V., Shnayder N.A., Dmitrenko D.V., Guzey T.N.
Vol 12, No 4 (2017) Neuromyelitis optica spectrum disorder in childhood (a case report) PDF
(Rus)
Kotov A.S., Tokareva Y.V., Lutsik V.N., Panteleeva M.V., Shatalin A.V., Mukhina E.V., Bunak M.S., Andryukhina O.M.
Vol 12, No 4 (2017) Differential diagnosis difficulties of focal central nervous system damage in children (а сlinical case) PDF
(Rus)
Skripchenko E.Y., Vilnits A.A., Karev V.E., Skripchenko N.V., Surovzeva A.V., Imyanitov E.N., Marchenko N.V., Buhalko M.A., Suspitsin E.N.
Vol 12, No 3 (2017) MUTATIONS IN THE ARX GENE: CLINICAL, ELECTROENCEPHALOGRAPHIC AND NEUROIMAGING FEATURES IN 3 PATIENTS PDF
(Rus)
Ivanova I.V., Mukhin K.Y., Pylaeva O.A., Bobylova M.Y., Kvaskova N.E., Petrukhin A.S.
Vol 12, No 2 (2017) HYPOXIC BRAIN INJURY IN THE EARLY POSTOPERATIVE PERIOD (A CASE REPORT) PDF
(Rus)
Ovezov A.M., Kotov A.S., Panteleeva M.V., Borisova M.N., Stashuk G.A., Lugovoy A.V., Razheva I.V.
Vol 12, No 2 (2017) NEUROFIBROMATOSIS TYPE 1 OR GIANT MELANOCYTIC NEVUS: PROBLEMS OF DIAGNOSTIC PDF
(Rus)
Ol’shanskaya A.S., Dyuzhakova A.V., Artyukhov I.P., Shnayder N.A., Dmitrenko D.V., Karacheva Y.V.
Vol 11, No 4 (2016) EFFICACY OF RUFINAMIDE IN THE TREATMENT OF DRUG-RESISTANT FOCAL EPILEPSIES IN PAEDIATRIC PRACTICE PDF
(Rus)
Shchederkina I.O., Orlova K.A., Koltunov I.E., Dorofeeva M.Y.
Vol 11, No 4 (2016) PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS PDF
(Rus)
Bobylova M.Y., Nikitina M.A., Mukhin K.Y., Kulikov A.V.
Vol 11, No 4 (2016) FEBRILE INFECTION-RELATED EPILEPSY SYNDROME (FIRES) IN SCHOOLCHILDREN: LITERATURE REVIEW AND OWN OBSERVATIONS PDF
(Rus)
Kulikova S.L., Likhachev S.A., Belaya S.A., Svinkovskaya T.V., Kashyna A.R.
Vol 11, No 3 (2016) RETT SYNDROME: DIFFICULTIES OF DIAGNOSTICS (CLINICAL AND PSYCHOPATHOLOGICAL ASPECTS) PDF
(Rus)
Malinina E.V., Zabozlaeva I.V.
Vol 11, No 3 (2016) THE MITOCHONDRIAL DISEASE NARP SYNDROME IN THE PRACTICE OF A PEDIATRIC NEUROLOGIST PDF
(Rus)
Shishkina E.V., Barkhatov M.V., Borisova E.V., Falalaleeva S.O., Shchekaleva N.A., Makarevskaya N.Y., Chubko M.A.
Vol 11, No 2 (2016) THE PROBLEMS ASSOCIATED WITH SWITCHING BRAND-NAME ANTIEPILEPTIC DRUGS TO GENERICS: A FOCUS ON TOPAMAX: A REVIEW OF LITERATURE AND A CASE REPORT PDF
(Rus)
Mukhin K.Y., Pylaeva O.A., Bobylova M.Y.
Vol 11, No 2 (2016) USE OF PERAMPANEL IN THE TREATMENT OF EPILEPSY: A REVIEW OF LITERATURE AND A CASE REPORT PDF
(Rus)
Mukhin K.Y., Pylaeva O.A.
Vol 11, No 1 (2016) ORNITHINE TRANSCARBAMYLASE DEFICIENCY – THE REAL CAUSE OF “FAMILY CURSE”. A CASE REPORT PDF
(Rus)
Bagomedova Z.S., Kotov A.S., Borisova M.N., Panteleeva M.V., Zhurkova N.V., Byome A.A., Kotalevskaya Y.Y., Mironova O.S., Razheva I.V.
Vol 11, No 1 (2016) SPASTIC FORM OF CEREBRAL PALSY, EPILEPSY WITH BENIGN EPILEPTIFORM DISCHARGE OF CHILDHOOD ON ELECTROENCEPHALOGRAM, AND IATROGENIC STEVENS–JOHNSON SYNDROME (CASE DESCRIPTION) PDF
(Rus)
Kotov A.S., Borisova M.N., Panteleeva M.V., Shatalin A.V., Korobkina E.O.
Vol 10, No 4 (2015) RUFINAMIDE (INOVELON) IN THE TREATMENT OF LENNOX–GASTAUT SYNDROME (A REVIEW OF LITERATURE AND CLINICAL CASE) PDF
(Rus)
Mukhin K.Y., Pylaeva O.A.
Vol 10, No 4 (2015) PSEUDOTUMORAL FORM OF MULTIPLE SCLEROSIS WITH SYMPTOMATIC CONVULSIVE SEIZURES (A CLINICAL CASE) PDF
(Rus)
Belova Y.A., Yakushina T.I., Rudakova I.G.
Vol 10, No 4 (2015) SPECIFIC FEATURES OF ELECTROENCEPHALOGRAPHIC PAROXYSMAL ACTIVITY REGISTRATION IN OLD AGE GROUP PATIENTS PDF
(Rus)
Gulyaev S.A., Arkhipenko I.V., Gulyaeva S.E., Ovchinnikova A.A., Ovchinnikov A.V.
Vol 10, No 3 (2015) KLEINE–LEVIN SYNDROME AFTER USE OF RECREATIONAL DRUGS PDF
(Rus)
Semenova E.I., Tokareva Y.V., Belova Y.A., Kotov A.S., Eliseev Y.V.
Vol 10, No 3 (2015) A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS PDF
(Rus)
Bobylova M.Y., Mironov M.B., Abramov M.O., Kulikov A.V., Kazakova M.V., Glukhova L.Y., Barletova E.I., Mukhin K.Y.
Vol 10, No 3 (2015) VALPARIN XR IN THE TREATMENT OF EPILEPSY (А REVIEW OF LITERATURE AND A DESCRIPTION OF CLINICAL CASES) PDF
(Rus)
Freidkova N.V., Pylaeva O.A., Mukhin K.Y.
Vol 10, No 1 (2015) ACUTE ATAXIA, TAKING PLACE AFTER ACUTE RESPIRATORY VIRAL INFECTION IN 2 Y. O. GIRL, AS A DEBUT NEUROLOGIC SIGN OF THE ANGELMAN SYNDROME PDF
(Rus)
Voropanova E.B., Bobylova M.Y., Mironov M.B., Kulikov A.V.
Vol 10, No 1 (2015) EARLY ONSET BENIGN CHILDHOOD OCCIPITAL EPILEPSY (PANAYIOTOPOULOS SYNDROME). A CASE REPORT PDF
(Rus)
Маtyuk Y.V., Kotov A.S., Borisova M.N., Panteleeva M.V., Shatalin A.V.
Vol 10, No 1 (2015) ZONISAMIDE (ZONEGRAN) IN THE TREATMENT OF EPILEPSY IN ADULTS AND CHILDREN (A REVIEW AND CLINICAL CASE) PDF
(Rus)
Мukhin K.Y., Pylaeva O.A.
Vol 9, No 1 (2014) KOZHEVNIKOV–RASMUSSEN’S ENCEPHALITIS. A CASE REPORT PDF
(Rus)
Kotov A.S., Rudakova I.G., Mukhin K.Y., Mironov M.B., Kvaskova N.E., Alihanov A.A.
Vol 9, No 1 (2014) IDIOPATHIC FOCAL EPILEPSY WITH PSEUDOGENERALIZED SEIZURES (A CLINICAL CASE) PDF
(Rus)
Sadekov I.A., Sadekova I.V., Petrenko L.V., Tishkovetz O.I.
Vol 9, No 2 (2014) GELASTIC SEIZURES IN TUBEROUS SCLEROSIS PDF
(Rus)
Mironov M.B., Mukhin K.Y., Dorofeeva M.Y., Ivanova I.V., Zhuravlyova T.I., Alikhanov A.A.
Vol 9, No 2 (2014) THE DIAGNOSIS AND TREATMENT OF JEAVONS SYNDROME PDF
(Rus)
Kulagin V.N., Mikhailichenko N.V.
Vol 9, No 3 (2014) EATING EPILEPSY PDF
(Rus)
Rudakova I.G., Mukhin K.Y., Mironov M.B., Abramov M.O.
Vol 9, No 3 (2014) THE DIAGNOSIS AND TREATMENT OF PANDAS SYNDROME: A CASE REPORT PDF
(Rus)
Kharitonov V.I., Vinnik Y.M., Selyukov G.I.
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