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Epilepsy and paroxysmal conditions

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Vol 11, No 1 (2019) Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case Abstract  similar documents
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
"... ; video electroencephalography, and brain MRI. Using the targeted exome sequencing of genes associated ..."
 
Vol 7, No 1 (2015) SEVERE EPILEPTIC ENCEPHALOPATHY OF EARLY CHILDHOOD DUE TO SCN2A MUTATION Abstract  similar documents
I. S. Bachtin, E. D. Belousova, P. A. Shatalov, S. O. Ayvazyan
"... SCN2A mutations are traditionally described in benign infantile seizures. We are describing rather ..."
 
Vol 11, No 2 (2019) Early infantile epileptic encephalopathy type 4: clinical, neurophysiological and therapeutic aspects Abstract  similar documents
A. A. Kholin, N. N. Zavadenko, L. M. Kolpakchi, I. D. Fedonyuk, A. S. Papikyan, А. N. Zavadenko, E. S. Ilina
"... encephalopathy type 4 (EIEE4) caused by a STXBP1 gene mutation. Material and methods. During 2016-2019, we ..."
 
Vol 9, No 4 (2017) THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY Abstract  similar documents
A. G. Malov
"... with a suspected nuclear DNA mutation – the epilepsyassociated gene panel exome sequencing of nuclear DNA ..."
 
Vol 7, No 2 (2015) NEUROLOGICAL PAROXYSMAL DISORDERS IN CHILDREN WITH HYPOGLYCEMIA IN CONGENITAL HYPERINSULINISM: POLYMORPHISM OF CLINICAL IMPLICATIONS Abstract  similar documents
I. O. Shchederkina, M. A. Melikyan, A. N. Zavadenko, E. V. Kozlova, N. N. Zavadenko
"... . Children with ABCC8 gene mutations have more complicated for CHI and more prominent developmental delay.  ..."
 
Vol 10, No 3 (2018) Sudden unexpected death in genetic epileptic encephalopathies: a role of neurocardiac genes Abstract  similar documents
E. D. Belousova, M. A. Shkolnikova
"... encephalopathies (EE), partly because those syndromes are associated with mutations in the “neurocardiac” genes ..."
 
Vol 8, No 2 (2016) CLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSY Abstract  similar documents
N. A. Shnayder, O. S. Shilkina, K. V. Petrov, I. A. Chernykh, A. V. Diuzhakova
"... эпилепсия, ЮМЭ, синдром Янца, под- синдром, фенотип, генотип, генетика, ген, мутация, полигенное ..."
 
Vol 7, No 1 (2015) ALPERS-HUTTENLOCHER SYNDROME Abstract  similar documents
T. T. Batysheva, V. M. Trepilets, L. Ya. Akhadova, G. S. Golosnaya
"... Alpers-Huttenlocher syndrome is a rare mitochondrial disease connected with mutations ..."
 
Vol 4, No 4 (2012) CLINICAL AND DIAGNOSTIC FEATURES OF EPILEPSY WITH ACCOMPANYING (INACTIVE) ORGANIC ENCEPHALOPATHY Abstract  similar documents
S. A. Gromov, A. A. Kolyada, Y. N. Khrolenkov
"... suffering from epilepsy (E) combined with organic encephalopathy (OE). The morbid state in E and OE patients ..."
 
Vol 8, No 4 (2016) THE DIAGNOSTIC VALUE OF EEG AND BIOCHEMICAL MARKERS OF BRAIN INJURY IN HYPOXIC-ISCHEMIC ENCEPHALOPATHY Abstract  similar documents
D. V. Blinov
"... Perinatal hypoxic-ischemic encephalopathy (HIE) is a one of common cause of damage to neonatal CNS ..."
 
Vol 6, No 2 (2014) ATYPICAL EVOLUTION OF BENIGN CHILDHOOD EPILEPSY WITH CENTRAL TEMPORAL SPIKES AS A MANIFESTATION OF EPILEPTIC ENCEPHALOPATHY Abstract  similar documents
D. A. Kot, L. V. Shalkevich
"... encephalopathy related to electrical status epilepticus during slow sleep (ESES). Epilepsia. 2012; 53 (7 ..."
 
Vol 10, No 1 (2018) EPILEPTIC ENCEPHALOPATHIES WITH ELECTRICAL STATUS EPILEPTICUS OF SLOW-WAVE SLEEP (ESES): DIAGNOSIS AND PHARMACOTHERAPY Abstract  similar documents
A. A. Kholin
"... -dependent epileptic encephalopathies with continuous spike-wave activity during slow wave sleep. This group ..."
 
Vol 4, No 2 (2012) MULTIFOCAL EPILEPSY – VIEW OF MODERN NEUROPHYSIOLOGIST Abstract  similar documents
V. O. Generalov, G. N. Avakyan, T. R. Sadykov, Yu. V. Kazakova
"... are epileptic encephalopathies, genetic canalopathies and consequences of perinatal brain lesions. Formation ..."
 
Vol 9, No 2 (2017) EFFICACY AND SAFETY OF LEVETIRACETAM IN CHILDREN WITH ELECTRICAL STATUS EPILEPTICUS DURING SLOW-WAVE SLEEP (ESES) Abstract  similar documents
A. A. Kholin, N. N. Zavadenko, I. D. Fedonyuk, E. S. Il`ina
"... ”) is a form of age-dependent epileptic encephalopathies with the phenomenon of continuous spike-waves during ..."
 
Vol 8, No 1 (2016) NEURODEVELOPMENTAL DISORDERS IN CHILDREN WITH EPILEPSY Abstract  similar documents
N. N. Zavadenko
"... and regression of acquired skills are typical for epileptic encephalopathies. On the other hand ..."
 
Vol 9, No 4 (2017) NEURODEVELOPMENTAL DISORDERS IN CHILDREN WITH EPILEPSY: INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDERS Abstract  similar documents
N. N. Zavadenko
 
Vol 10, No 3 (2018) Etiologies of neonatal seizures in infants of different gestational age Abstract  similar documents
A. N. Zavadenko, M. I. Medvedev, M. G. Degtyareva, S. O. Rogatkin, N. N. Zavadenko
 
Vol 8, No 1 (2016) EPILEPTIC ENCEPHALOPTHIES WITH ELECTRICAL STATUS EPILEPTICUS SLOW SLEEP (ESES) Abstract  similar documents
A. A. Kholin
"... encephalopathies of childhood such as Landau-Kleffner, pseudo-Lennox syndromes, autistic epileptiform regression ..."
 
Vol 8, No 4 (2016) EPILEPSY SYNDROMES WITH CONTINIUOS SPIKE AND WAVE ACTIVITY DURING SLEEP Abstract  similar documents
O. A. Shidlovskaya, E. D. Belousova
 
Vol 6, No 2 (2014) EPILEPTOLOGY — XX CENTURY Abstract  similar documents
V. A. Karlov
"... in epileptology - study of "epilepsy without seizures" or epileptic encephalopathy version without seizure ..."
 
Vol 8, No 1 (2016) EPILEPSY IN INBORN ERRORS OF METABOLISM Abstract  similar documents
E. D. Belousova
"... in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type ..."
 
Vol 7, No 3 (2015) RÜLFS CRAMP AND OTHER PAROXYSMAL DYSKINESIA Abstract  similar documents
M. V. Selikhova, Z. Z. Zalyalova, N. I. Bogdanova, G. G. Avakyan, G. Houlden
"... мутация усечения на хромосоме 16 в локу- се 11.2-12.1 в гене PRRT2, кодирущим богатый проли- ном ..."
 
Vol 8, No 2 (2016) THE COMPARATIVE EFFICACY OF PERSONALIZING THERAPY WITH ANTICONVULSANTS AND ANTIPSYCHOTICS ON THE BASIS OF PHARMACOGENETIC TESTING Abstract  similar documents
T. V. Dokukina, A. I. Startsev, M. V. Makhrov, I. V. Haidukevich, T. S. Golubeva, A. A. Gilep, E. A. Sheremet, I. V. Shamruk, A. S. Pinchuk, S. A. Marchuk, F. P. Khlebokazov, N. N. Misyuk
"... определения активности у пациентов изоферментов цитохрома P-450 и транспортеров. Мутации в генах ..."
 
Vol 9, No 1 (2017) ILAE CLASSIFICATION OF THE EPILEPSIES: THE 2017 REVISION AND UPDATE Abstract  similar documents
G. N. Avakyan, D. V. Blinov, A. V. Lebedeva, S. G. Burd, G. G. Avakyan
"... “developmental and epileptic encephalopathy” can be applied in whole or in part where appropriate. The 2017 ..."
 
Vol 8, No 1 (2016) EFFECT OF KETOGENIC DIET ON COGNITIVE AND MOTOR FUNCTIONS IN CHILDREN WITH DRUG-RESISTANT EPILEPSY Abstract  similar documents
E. G. Lukyanova, S. O. Ayvazyan, K. V. Osipova, T. N. Sorvacheva, E. A. Pyreva
"... an epileptic encephalopathy with regression of cognitive and motor functions especially in childhood ..."
 
Vol 6, No 2 (2014) TERATOGENESIS OF ANTIEPILEPTIC DRUGS: REVIEW AND CLINICAL CASES Abstract  similar documents
D. V. Dmitrenko, N. A. Shnayder
"... возникновения ВПР пло- да на ранних сроках гестации (1-й триместр), а также к летальным хромосомным мутациям, и ..."
 
Vol 5, No 3 (2013) AGE-DEPENDING EFFICIENCY AND SAFETY OF TOPIRAMATE IN PATIENTS WITH DIFFERENT FORMS OF EPILEPSY Abstract  similar documents
A. A. Kholin, N. N. Zavadenko, E. S. Il'ina, I. D. Fedonyuk, L. M. Kolpakchi, V. S. Khalilov, E. S. Kosyakova
"... be useful additional drug in the therapy of epileptic encephalopathies. With the increasing of patients’ age ..."
 
Vol 5, No 3 (2013) CLINICAL SIGNIFICANCE OF STUDYING GENETIC POLYMORPHISM OF THE Р450 CYP2C9 AND CYP2C19 DETOXIFYING ENZYME GENES IN EPILEPTIC CHILDREN Abstract  similar documents
O. V. Guzeva, E. N. Imyanitov
"... encephalopathies and in 63.83% of children with symptomatic and cryptogenic focal epilepsy (with and without ..."
 
Vol 6, No 3 (2014) SEIZURES AS THE DEBUT SYMPTOMS OF ACUTE PAEDIATRIC STROKE Abstract  similar documents
L. V. Shalkevich, O. A. Lvova, A. N. Dron
"... мозга и высоким уровнем лактата при МР-спеткроскопии (ЛССЛ-синдром) организовано прямое секвенирование ..."
 
Vol 8, No 4 (2016) NONCONVULSIVE STATUS EPILEPTICUS IN PATIENTS WITH LIMBIC ENCEPHALITIS Abstract  similar documents
M. A. Sherman, I. V. Ardashev, I. V. Ponomareva, H. Sherman
"... пациентов с анти- LGI1-лимбическим энцефалитом мутации LGI1 протеина связаны с синдромом аутосомно-доми ..."
 
Vol 4, No 2 (2012) EPILEPSY IN CHILDREN WITH MYTOCHONDRIAL DISEASES: DIAGNOSTICS AND TREATMENT FEATURES Abstract  similar documents
N. N. Zavadenko, A. A. Kholin
"... , кодируемые ядерной ДНК (яДНК). Мутации мтДНК могут приводить к нарушению выра- ботки энергии и гибели ..."
 
Vol 7, No 1 (2015) ОБРАЩЕНИЕ ГЛАВНОГО РЕДАКТОРА ЖУРНАЛА ДОКТОР МЕДИЦИНСКИХ НАУК, ПРОФ. Г.Н. АВАКЯНА Abstract  similar documents
"... энцефалопатии раннего детского возраста. Мутации в гене SCN2A ранее описывались как причина развития доброкаче ..."
 
Vol 8, No 4 (2016) NEWS Abstract  similar documents
Article Editorial
"... . Исследователи нашли такой белок и у людей – TBC1D24. Мутации в гене, кодирующем этот белок, приводят к ..."
 
Vol 8, No 2 (2016) TREATMENT OF EPILEPSY IN TUBEROUS SCLEROSIS Abstract  similar documents
E. D. Belousova, M. Y. Dorofeeva, T. G. Ohapkina
"... обусловлены мутациями в гене TSC2 (OMIM 191092) (ТС 2-го типа — OMIM #613254), локализованном на 16-й ..."
 
Vol 5, No 4 (2013) ЭПИЛЕПСИЯ ПРИ НАСЛЕДСТВЕННОЙ ПАТОЛОГИИ Abstract  similar documents
,
"... склерозом име- ются мутации в генах TSC1 (9q34) и/или TSC2 (16p13), кодирующих белки гамартин и туберин ..."
 
Vol 4, No 3 (2012) WAYS OF IMPROVEMENT OF PHARMACOTHERAPY OF EPILEPSY AT CHILDREN: FOCUS ON SPECIFIC FEATURES OF BIOTRANSFORMATION MEDICINES Abstract  similar documents
B. I. Kantemirova, A. K. Starodubtsev, D. A. Sychev, V. V. Belopasov, Zh. M. Tsotsonava, V. I. Griganov
"... мутации генов C802T, SCNIA, MDR1, FABP2, CYP1А2, CYP2А6, CYP2С9, CYP2С19, CYP2Е1, CYP3А4. Исследования в ..."
 
Vol 6 (2014): Special issue УПРАВЛЕНИЕ НЕЖЕЛАТЕЛЬНЫМИ ЯВЛЕНИЯМИ, ВОЗНИКАЮЩИМИ НА ФОНЕ ПРИЕМА ПЕРАМПАНЕЛА Abstract  similar documents
"... направ- лена на молекулярно-генетическую диагностику. Обнаружена мутация de novo в локусе 15q11 – вери ..."
 
Vol 3, No 4 (2011) KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE Abstract  similar documents
N. Yu. Borovikova, K. S. Borovikov, K. Yu. Mukhin, M. B. Mironov
"... . Большинство случаев – мутация de novo [5,33,11]. У лиц мужского и женского пола заболевание встреча- ется с ..."
 
Vol 4, No 1 (2012) HYPOMELANOSIS OF ITO WITH EPILEPSY: TWO CASES IN CLINICAL PRACTICE Abstract  similar documents
M. B. Mironov, N. Yu. Borovikova, K. S. Borovikov, K. Yu. Mukhin
"... 11-q13; мозаичная трисомия хромосомы 18, те- трасомия 12p; мутации в X-хромосоме (Xp11, Xp21 ..."
 
Vol 8, No 4 (2016) PERAMPANEL IN THE TREATMENT OF REFRACTORY EPILEPSY IN EVERYDAY CLINICAL PRACTICE IN ADOLESCENTS Abstract  similar documents
S. G. Burd, M. B. Mironov, M. M. Gunchenko, M. N. Sarzhina
"... Ангельмана, ча- стые мутации гена TPP1/CLN2 – не выявлены (нейро- нальный цероидный липофусциноз, тип 2 ..."
 
Vol 5, No 3 (2013) PROBLEMS OF PARANEOPLASTIC LIMBIC ENCEPHALITIS DIAGNOSIS Abstract  similar documents
N. A. Shnayder, D. V. Dmitrenko, Yu. A. Dykhno, V. V. Ezhikova
 
Vol 9, No 2 (2017) PATHOLOGICAL SIGNS OF EPILEPTIC AND NON-EPILEPTIC ORIGIN DETECTED IN AWAKE/SLEEP EEG PATTERNS DURING OUTPATIENT AND INPATIENT MONITORING: PROBLEMS OF INTERPRETATION Abstract  similar documents
V. V. Gnezditskiy, O. S. Korepina, V. A. Karlov, G. B. Novoselova
"... – panic attacks (vegetative paroxysms), DE – dyscirculatory encephalopathy. Corresponding author Address ..."
 
Vol 6, No 1 (2014) MODERN TREATMENT OPTIONS FOR DRUG-RESISTANT EPILEPSY IN CHILDREN Abstract  similar documents
S. O. Aivazyan, E. G. Lukyanova, Yu. S. Shiryaev
"... вследствие мутаций в ге- нах, кодирующих потенциалзависимые ионные кана- лы: Na+-каналы кодируются генами SCN ..."
 
Vol 6, No 2 (2014) FOCAL MOTOR SEIZURES WITH HYPERKINETIC AUTOMATISMS IN PEDIATRIC PRACTICE Abstract  similar documents
K. Yu. Mukhin, M. B. Mironov
"... заболевания: локус 20q13.2 и 15q [20]. Мутация затрагивает подтип альфа-4 никотиновых ацетилхо- линовых ..."
 
Vol 5, No 2 (2013) MODERN TECHNOLOGIES IN THERAPEUTIC DRUG MONITORING (REVIEW) Abstract  similar documents
D. A. Abaimov, A. K. Sariev, T. Yu. Noskova, V. V. Shvedkov, M. V. Shiryaeva, E. Yu. Styrova, D. I. Prokhorov, R. D. Seyfulla
"... и режим питания. Наиболее изучены генетические факторы, связан- ные с мутациями и полиморфизмом ..."
 
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