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2.
Zhonghua Er Ke Za Zhi ; 57(11): 844-851, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665838

RESUMO

Objective: To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Methods: Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children's Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ(2) test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group. Results: Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ(2)=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066). Conclusions: The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.


Assuntos
Epilepsia/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Doenças Mitocondriais/diagnóstico por imagem , Anticonvulsivantes/uso terapêutico , Criança , Epilepsia/tratamento farmacológico , Epilepsia/genética , Feminino , Humanos , Masculino , Doenças Mitocondriais/genética , Fenótipo , Estudos Retrospectivos , Convulsões
3.
Medicine (Baltimore) ; 98(44): e17749, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689829

RESUMO

RATIONALE: Early infantile epileptic encephalopathy (EIEE) 65 was recently shown to be caused by the cytoplasmic FMRP interacting protein 2 (CYFIP2) mutation. To date, only 5 cases have been reported in two articles, and all the outcomes in all cases were poor. PATIENT CONCERNS: In this study, we reported an 8-month-old girl with a 1 month-long history of seizures and developmental delay. Over 1 month later, she developed epileptic spasms in clusters with hypsarrhythmia on electroencephalography. DIAGNOSIS: The patient was diagnosed with EIEE 65 and trio-based whole-exome sequencing revealed a causative de novo CYFIP2 mutation c.260G >T (p.Arg87Leu). INTERVENTIONS: The proband was successively treated with multiple antiepileptic drugs, including levetiracetam, phenobarbital, VitB6, topiramate, methylprednisolone, prednisone, valproic acid and vigabatrin. OUTCOMES: After resistance to multiple anti-epileptic drugs over 2 months of treatment, she finally achieved seizure-free several days after vigabatrin administration and her developmental delay steadily improved. LESSONS: OUR: case confirmed that CYFIP2 was the pathogenic gene of EIEE 65. We also first demonstrated vigabatrin might be effective for control of seizures and helpful for the improved outcomes of these patients.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Mutação/genética , Espasmos Infantis/genética , Anticonvulsivantes/uso terapêutico , Diagnóstico Precoce , Feminino , Humanos , Lactente , Espasmos Infantis/diagnóstico , Espasmos Infantis/tratamento farmacológico , Resultado do Tratamento
4.
West Afr J Med ; 36(3): 211-216, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31622482

RESUMO

BACKGROUND: Antiepileptic drugs are necessary for successful treatment of epilepsy. Unfortunately, epilepsy itself and some antiepileptic drugs have been documented to provoke or worsen seizure frequency by altering blood levels of some oxidants and antioxidants in persons with epilepsy. OBJECTIVE: This study investigated the effect of epilepsy and antiepileptic drugs on blood levels of some oxidants and antioxidants. METHODOLOGY: This was a cross-sectional case-control study. Blood samples were obtained from 35 antiepileptic drug-experienced persons with epilepsy; 35 antiepileptic-naive persons with epilepsy; and 35 age- and- sex matched apparently healthy controls; and analysed for malondialdehyde and antioxidants (uric acid, superoxide dismutase, glutathione peroxidase and catalase) using enzyme-linked immunosorbent assay. RESULTS: One-hundred and five (105) subjects (35 patients on antiepileptic drugs, 35 newly diagnosed, antiepileptic drug-naive and 35 healthy controls) were investigated. The median ages of antiepileptic drug-experienced, antiepileptic drug-naive and healthy participants were 30.0, 26.0 and 37.0 years respectively. Persons with epilepsy had significantly higher blood levels of malondialdehyde and uric acid and lower levels of enzymatic antioxidants than healthy controls. Also, persons with epilepsy on antiepileptic drug polytherapy had signi-ficantly higher blood levels of malondialdehyde and uric acid and lower levels of enzymatic antioxidants than antiepileptic drug-naive persons with epilepsy and persons with epilepsy on antiepileptic drug monotherapy respectively. CONCLUSION: Epilepsy and antiepileptic drug significantly altered blood levels of malondialdehyde, uric acid and enzymatic antioxidants and/or their homeostatic kinetics.


Assuntos
Anticonvulsivantes/uso terapêutico , Antioxidantes/metabolismo , Epilepsia/sangue , Epilepsia/tratamento farmacológico , Eritrócitos/metabolismo , Malondialdeído/sangue , Adulto , Antioxidantes/análise , Estudos de Casos e Controles , Estudos Transversais , Humanos
5.
Medicina (B Aires) ; 79 Suppl 3: 6-9, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603835

RESUMO

The objective was to describe the frequency, mode of presentation and characteristics of epilepsy in children with congenital hemiparesis (CH). It is a etrospective, descriptive and multicenter study, based on the collection of data from the clinical records of patients from 0 to 19 years with CH secondary to perinatal infarction in different centers of the community of Catalonia. A total of 310 children were included (55% males and 45% females), from a total of 13 centers in Catalonia. Average age of onset of the crises was 2 ± 1 year. Epilepsy was present in 29.5% (n = 76), among which the most frequent vascular subtype was arterial presumed perinatal ischemic stroke (51.3%), followed by neonatal arterial ischemic stroke (18.4%), periventricular venous infarction (15.8%), neonatal hemorrhagic stroke (10.5%) and neonatal cerebral sinovenous thrombosis (3.9%). Semiology of the most frequent seizures was motor focal in 82%, followed by focal motor with secondary bilateralization in 23%, focal discognitive in 13.5%, generalized by 2% and spasms in 6.5%. The 67.3% were controlled with monotherapy and the drugs used were valproate, levetiracetam or carbamazepine. The antecedent of electrical status during sleep was identified in 3 patients, all associated with extensive lesions that included the thalamus. Of the total number of children with epilepsy, 35% began with neonatal seizu res in the first 3 days of life. The 30% of children with perinatal stroke and CH present a risk of epilepsy during childhood. Children with ischemic strock have the highest risk, so they will require a follow-up aimed at detecting prematurely the epilepsy and start a treatment.


Assuntos
Epilepsia/etiologia , Paresia/congênito , Paresia/etiologia , Acidente Vascular Cerebral/complicações , Adolescente , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Epilepsia/tratamento farmacológico , Feminino , Humanos , Lactente , Recém-Nascido , Levetiracetam/uso terapêutico , Masculino , Estudos Retrospectivos , Fatores de Risco , Convulsões/etiologia , Espanha , Ácido Valproico/uso terapêutico , Adulto Jovem
6.
Medicina (B Aires) ; 79 Suppl 3: 42-47, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603843

RESUMO

Epileptic encephalopathies is a group of epileptic syndromes characterized by progressive cognitive impairment beyond the expected for the epilepsy activity. They are characterized by severe pharmaco-resistant epilepsy, severely abnormal electroencephalograms, early-age onset, neurocognitve impairment, variable phenotype and usually normal brain MRI. These syndromes are usually genetically determined. A correct and timely diagnosis could help and guide the medical counselling and the correct therapeutic approach improving the short, medium and long term outcomes. In this article we review the electroencephalographic and genetic findings along with the most recommended therapeutic options facilitating the clinical management. We include the following epileptic encephalopathy syndromes: Ohtahara, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West, Dravet, non-progressive myoclonic status, Doose, Lennox-Gastaut, Landau-Kleffner and continuous spike-wave during sleep epilepsy.


Assuntos
Encefalopatias/genética , Epilepsias Mioclônicas/genética , Espasmos Infantis , Anticonvulsivantes/classificação , Anticonvulsivantes/uso terapêutico , Encefalopatias/classificação , Encefalopatias/diagnóstico , Encefalopatias/tratamento farmacológico , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico , Epilepsias Mioclônicas/tratamento farmacológico , Humanos , Síndrome
7.
Medicina (B Aires) ; 79 Suppl 3: 48-53, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603844

RESUMO

Antiepileptic drugs are the first treatment option in patients with epilepsy. Drugs developed after 2000 are known as third generation antiepileptic drugs. These medications offer new mechanisms of action and favorable pharmacokinetics, decreasing the occurrence of side effects and drug-drug interactions. Broad spectrum antiepileptic drugs, such as brivaracetam and clobazam are good choices for generalized tonic colonic seizures and are well tolerated.New sodium channel blockers such as lacosamide and eslicarbazepine, have a more "benign" side effect profile than the first or second generation of sodium channel blockers. These new drugs are useful therapies in patients with epilepsy of difficult control. Cannabidiol and fenfluramine are useful in the treatment of Dravet or Lennox Gastaut syndrome. Allopregnenolona and ganaxolone showed good efficacy in status epilepticus and could play an important future role in this clinical scenario.


Assuntos
Anticonvulsivantes/farmacologia , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Anticonvulsivantes/classificação , Interações de Medicamentos , Humanos , Estado Epiléptico/tratamento farmacológico
8.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 41(4): 566-571, 2019 Aug 30.
Artigo em Chinês | MEDLINE | ID: mdl-31484623

RESUMO

Epilepsy has high incidence and complex etiologies,and its treatment remains challenging.For around 70% of people with epilepsy,seizures can be controlled after proper antiepileptic treatment.The availability of some new antiepileptic drugs in recent years has offered new options for epileptic patients.A solid knowledge on the pharmacokinetics,efficacy,and tolerability profiles of these new antiepileptic drugs will help to provide safe,proper,reasonable,and standardized treatment for patients.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Humanos , Convulsões/tratamento farmacológico
9.
Psychiatr Danub ; 31(Suppl 3): 595-603, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488797

RESUMO

BACKGROUND: Bipolar disorder is a mental illness characterised by periods of elevated mood alternating with periods of depression. Long-term relapse prevention in bipolar disorder is challenging, with a significant number of patients relapsing following the initial stabilisation of mood. Initial treatment of the condition is complex and usually occurs in secondary care. Whilst there is no known cure for bipolar disorder, several therapies have been found to be effective in both managing acute episodes and sustaining long-term remission. The key pharmacological therapies in bipolar disorder are lithium salts, antiepileptics and antipsychotics and these will be the focus of this review. AIM: This review seeks to outline the key common pharmacological therapies used in the treatment and relapse prevention of this condition. METHODS: A MEDLINE search was performed, and the available literature was subsequently analysed, including meta-analyses, reviews and original clinical trials. RESULTS: Management strategies can be subdivided into treating acute presentations of mania and depression and maintaining long-term remission. The extensive side effect profile of several antipsychotics means that there are certain patient groups for whom they may be intolerable or contraindicated. Lithium emerges as a highly efficacious maintenance therapy but retains the burden of therapeutic drug monitoring. Antiepileptics play a crucial role in maintaining remission but are linked to serious, albeit rare, side effects. CONCLUSION: Despite the efficacy of the medications discussed in this article, their underlying mechanisms of action remain to be fully elucidated. Nonetheless, these key therapies continue to be essential tools in the management of bipolar disorder.


Assuntos
Anticonvulsivantes/uso terapêutico , Antipsicóticos/uso terapêutico , Transtorno Bipolar/tratamento farmacológico , Compostos de Lítio/uso terapêutico , Antimaníacos/uso terapêutico , Humanos
10.
Postgrad Med ; 131(7): 479-485, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31513436

RESUMO

Objectives: To evaluate clinical, electrophysiological, and neuroradiological factors which correlate with the prognosis in patients with mesial temporal lobe epilepsy (MTLE). Methods: This was a single-center prospective outcome study in patients with MTLE. The patients' family history, clinical characteristics, neurophysiological data (electroencephalography - EEG), neuroimaging, antiepileptic therapy, and outcome were collected and analyzed. The population was divided into four groups depending on the frequency of the seizures when they attended their last follow up. All variables and outcome measures were compared between the four groups. Results: In total 83 consecutive patients were included within the four groups. Group 1 (seizure-free) consisted of 7 patients, (9%), Group 2 (rare seizures) consisted of 15 patients (18%), Group 3 (often seizures) consisted of 30 patients (36%), and Group 4 (very often seizures) consisted of 31 patients (37%). The groups did not differ significantly in demographic characteristics. There was a strong positive correlation between resistance to therapy and sleep activation on EEG (p = 0.005), occurrence of focal to bilateral seizures (p = 0.007), automatisms (p = 0.004), and the number of previously used antiepileptic drugs (AEDs) (p = 0.002). There was no association between febrile convulsions (FC), hippocampal sclerosis (HS), and the outcome that was found. Conclusion: MTLE is a heterogeneous syndrome. Establishing the factors responsible for, and associated with, drug resistance is important for optimal management and treatment, as early identification of drug resistance should then ensure a timely referral for surgical treatment is made. This prospective study shows that sleep activation on EEG, ictal automatisms, occurrence of focal to bilateral tonic-clonic seizures, and increased number of tried AEDs are negative prognostic factors.


Assuntos
Automatismo/fisiopatologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsia do Lobo Temporal/fisiopatologia , Hipocampo/patologia , Convulsões Febris/fisiopatologia , Sono/fisiologia , Adulto , Idoso , Anticonvulsivantes/uso terapêutico , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Eletroencefalografia , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Esclerose , Adulto Jovem
11.
Med. infant ; 26(3): 267-271, sept. 2019. Tab
Artigo em Espanhol | LILACS | ID: biblio-1023724

RESUMO

Introducción: El estado epiléptico (EE) es la emergencia neurológica más frecuente en pediatría. Los pacientes que no responden al tratamiento estándar con dosis adecuadas de benzodiacepinas seguido de una droga antiepiléptica aceptable son definidos como Estado epiléptico Refractario (ER). Objetivo: caracterizar la población de niños con EE que ingresan a UCIP y determinar qué factores son predictores de refractariedad en esta población. Métodos: Estudio de casos y controles, retrospectivo. Población: niños con EE internados en UCIP desde Febrero 2015 a Febrero 2017. Casos: Estado epiléptico Refractario (ER). Controles: Estado epiléptico No Refractario (ENR). Se calculó el Odds Ratio (OR) individual para las distintas variables en Med Calc. Resultados: Se internaron 35 pacientes de los cuales 12 fueron casos y 23 controles. Hubo fiebre en 77% de los pacientes. En el total de niños estudiados hubo 11% con antecedente de convulsión febril, 11% con antecedente de epilepsia y 9% con antecedente de malformación del SNC. Los niños con antecedente de convulsión febril tuvieron 2,5 veces mayor riesgo de ER (OR: 2,58; IC 95%: 1,17-5,68). Los niños con EE que tenían antecedentes de enfermedad neurológica previa presentaron riesgo de ER 2,6 veces mayor que el grupo control (OR 2,60; IC 95%: 1,24-5,42). Discusión: Dado el aumento en la mortalidad de los pacientes con ER sería importante disponer de más herramientas para predecir este desenlace e iniciar tratamiento oportuno. Resultaría útil entrenar a los padres de niños con antecedente de convulsión febril en la aplicación de medicación antiepiléptica prehospitalaria, esto podría prevenir la farmacorresistencia, el daño neurológico y las complicaciones que acarrea el ingreso a UCIP. (AU)


Introduction: Status epilepticus (SE) is the most common neurologic emergency in children. Patients that do not respond to standard treatment with adequate doses of benzodiazepines followed by an acceptable antiepileptic drug are defined as having refractory status epilepticus (RSE). Objective: To characterize the population of children with SE admitted to the PICU and to determine predictive factors for refractoriness in this population. Methods: A retrospective case-control study was conducted. Population: Children with SE admitted to the PICU between February 2015 and February 2017. Cases: Refractory status pilepticus (RSE). Controls: Non-refractory status epilepticus (NRSE). Individual Odds Ratio (OR) was calculated for different variables using Med Calc. Results: 35 patients were admitted of whom 12 were cases and 23 controls. Overall, 77% of the patients had fever. Of all the children, 11% had a history of febrile seizures, 11% had history of epilepsy and 9% had a CNS malformation. Children with a history of febrile seizures had a 2.5-fold higher risk of developing RSE (OR: 2.58; 95% CI: 1.17-5.68). Children with SE that had a history of neurologic disease had a 2.6-fold higher risk of developing RSE than controls (OR 2.60; 95% CI: 1.24-5.42). Discussion: Given the increased mortality in children with RSE, availability of tools to predict this outcome in order to initiate early treatment is important. It would be useful to train the parents of children with a history of febrile seizures in the prehospital administration of antiepileptic drugs as this may prevent pharmaco-resistance, neurologic damage, and complication related to PICU admission (AU)


Assuntos
Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Estado Epiléptico/complicações , Estado Epiléptico/etiologia , Estado Epiléptico/tratamento farmacológico , Resistência a Medicamentos , Unidades de Terapia Intensiva Pediátrica , Convulsões Febris/tratamento farmacológico , Epilepsia Resistente a Medicamentos/terapia , Anticonvulsivantes/uso terapêutico , Estudos de Casos e Controles , Estudos Retrospectivos
12.
BMJ ; 366: l4485, 2019 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-31383632

RESUMO

Essential tremor is one of the most common movement disorders in adults and can affect both children and adults. An updated consensus statement in 2018 redefined essential tremor as an isolated action tremor present in bilateral upper extremities for at least three years. Tremor may also be present in other locations, commonly the neck or the vocal cords. Patients with additional neurologic symptoms are now categorized as "essential tremor plus." Additional clinical features associated with the condition include but are not limited to cognitive impairment, psychiatric disorders, and hearing loss. When treatment is needed, propranolol and primidone are considered first line treatments. Patients who are severely affected are often offered deep brain stimulation. Although the ventral intermediate nucleus of the thalamus is the traditional surgical target, the caudal zona incerta is also being studied as a possible superior alternative. Magnetic resonance imaging guided high intensity focused ultrasound is a newer surgical alternative that may be ideal for patients with substantial medical comorbidities. Current research explores novel oral treatments, chemodenervation, and noninvasive neuromodulation for treatment of essential tremor.


Assuntos
Tremor Essencial/complicações , Tremor Essencial/terapia , Antagonistas Adrenérgicos beta/uso terapêutico , Anticonvulsivantes/uso terapêutico , Antipsicóticos/uso terapêutico , Estimulação Encefálica Profunda , Tremor Essencial/diagnóstico , Tremor Essencial/epidemiologia , Tratamento por Ondas de Choque Extracorpóreas , Humanos , Bloqueio Nervoso
13.
Mymensingh Med J ; 28(3): 712-715, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31391451

RESUMO

The prevalence of seizures in individuals with Down Syndrome (DS) is higher than in the general population. Rates of epilepsy in DS range from 1-13%. Forty percent of individuals develop seizures before 1 year of age and another 40% develop in their thirties or later. Boys have an earlier age of onset. The prevalence of epilepsy increases with age. Types of seizures are: 47% partial seizures, 32% infantile spasms and 21% generalized tonic-clonic seizures. Sex distribution for epilepsy in children with DS varies. Males have a younger age at onset. Trisomy 21 is common among epileptic children with DS but mosaicism or translocation has also been documented. The mechanisms underlying the increased seizure susceptibility in DS have not yet been completely explained. Seizures in infancy may be due to inherent structural brain abnormalities, like fewer inhibitory neurons, abnormal cortical lamination, persistent fetal dendritic morphology, underdeveloped synaptic profiles. Concentrations of carbonic anhydrase II are increased in the brains of young children with DS. It potentially increases seizure susceptibility. The pharmacological treatment of epilepsy in DS is same as that of other patients diagnosed with epilepsy. Individuals with DS have an unusually high number of side-effects from phenytoin. The diagnosis, classification and treatment of epilepsy in DS follow the guidelines applied to the general population. Review of literatures from 1960 to 2017 and electronically identified articles on epilepsy in Down syndrome in children in English are searched from internet and pub med to describe features of seizures in children with DS.


Assuntos
Anticonvulsivantes , Síndrome de Down , Epilepsias Parciais , Epilepsia Generalizada , Anticonvulsivantes/uso terapêutico , Carbamazepina , Criança , Pré-Escolar , Síndrome de Down/complicações , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/etiologia , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/etiologia , Humanos , Convulsões
14.
Med Klin Intensivmed Notfmed ; 114(7): 628-634, 2019 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-31463678

RESUMO

If status epilepticus continues despite the use of intravenous antiepileptic drugs or narcotics, it is called "refractory" or "super-refractory" status epilepticus (RSE, SRSE). Prolonged seizure activity is associated with neuronal damage, systemic complications and mortality rates of up to 50%, especially in generalized tonic clonic seizure types. In order to terminate the status, several rescue interventions with drugs and other measures are available. However, their evidence base is low because the effectiveness of the measures was almost exclusively derived from case reports and case series. In individual cases, a good outcome is possible even after several months of ongoing SRSE.


Assuntos
Anticonvulsivantes/uso terapêutico , Estado Epiléptico , Morte , Humanos , Estado Epiléptico/complicações , Estado Epiléptico/terapia
15.
Medicine (Baltimore) ; 98(35): e17047, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31464964

RESUMO

RATIONALE: Seizures are rare during the perioperative period; in most cases, there is a previous history of epilepsy or surgery-associated seizures. Febrile convulsions may occur when the body temperature rises above 38°C; this is the most common cause of seizures in children. Febrile convulsions after general anesthesia in the postanesthetic care unit (PACU) without a past or family history are rare. Some reviews suggest that since anesthesia changes immunity, elective surgery should be postponed three weeks after live vaccination. PATIENT: A 12-month-old female with bilateral hearing loss underwent cochlear implantation under general anesthesia. She did not have any history of convulsions or developmental disorders. However, 1 week before surgery, measles-mumps-rubella (MMR) vaccination was given as a regular immunization. DIAGNOSES: Forty minutes after arrival at the PACU, sudden generalized tonic-clonic movement occurred during recovery and the patient's measured body temperature exceeded 38.0°C. INTERVENTIONS: Thiopental sodium was administered intravenously as an anticonvulsant, and the tonic-clonic movement stopped immediately. Endotracheal intubation was performed to secure the airway, and tepid massage and diclofenac ß-dimethylaminoethanol administration were performed to lower the patient's body temperature. OUTCOMES: There was no further fever and no seizures, and no other neurological deficits were observed until discharge. LESSONS: The anesthesiologist should check the recent vaccination history even if the patient has not developed particular symptoms after vaccination. It is important to know that febrile convulsions may occur in patients who have recently received MMR vaccination.


Assuntos
Período de Recuperação da Anestesia , Vacina contra Sarampo-Caxumba-Rubéola/efeitos adversos , Convulsões Febris/etiologia , Anticonvulsivantes/uso terapêutico , Implante Coclear/efeitos adversos , Feminino , Humanos , Lactente , Convulsões Febris/tratamento farmacológico , Tiopental/uso terapêutico
16.
Cochrane Database Syst Rev ; 8: CD008295, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31425617

RESUMO

BACKGROUND: This is an updated version of the Cochrane Review previously published in 2017.Epilepsy is a chronic and disabling neurological disorder, affecting approximately 1% of the population. Up to 30% of people with epilepsy have seizures that are resistant to currently available antiepileptic drugs and require treatment with multiple antiepileptic drugs in combination. Felbamate is a second-generation antiepileptic drug that can be used as add-on therapy to standard antiepileptic drugs. OBJECTIVES: To evaluate the efficacy and tolerability of felbamate versus placebo when used as an add-on treatment for people with drug-resistant focal-onset epilepsy. SEARCH METHODS: For the latest update we searched the Cochrane Register of Studies (CRS Web), MEDLINE, ClinicalTrials.gov and the WHO International Clinical Trials Registry Platform (ICTRP), on 18 December 2018. There were no language or time restrictions. We reviewed the reference lists of retrieved studies to search for additional reports of relevant studies. We also contacted the manufacturers of felbamate and experts in the field for information about any unpublished or ongoing studies. SELECTION CRITERIA: We searched for randomised placebo-controlled add-on studies of people of any age with drug-resistant focal seizures. The studies could be double-blind, single-blind or unblinded and could be of parallel-group or cross-over design. DATA COLLECTION AND ANALYSIS: Two review authors independently selected studies for inclusion and extracted information. In the case of disagreements, the third review author arbitrated. Review authors assessed the following outcomes: 50% or greater reduction in seizure frequency; absolute or percentage reduction in seizure frequency; treatment withdrawal; adverse effects; quality of life. MAIN RESULTS: We included four randomised controlled trials, representing a total of 236 participants, in the review. Two trials had parallel-group design, the third had a two-period cross-over design, and the fourth had a three-period cross-over design. We judged all four studies to be at an unclear risk of bias overall. Bias arose from the incomplete reporting of methodological details, the incomplete and selective reporting of outcome data, and from participants having unstable drug regimens during experimental treatment in one trial. Due to significant methodological heterogeneity, clinical heterogeneity and differences in outcome measures, it was not possible to perform a meta-analysis of the extracted data.Only one study reported the outcome, 50% or greater reduction in seizure frequency, whilst three studies reported percentage reduction in seizure frequency compared to placebo. One study claimed an average seizure reduction of 35.8% with add-on felbamate while another study claimed a more modest reduction of 4.2%. Both studies reported that seizure frequency increased with add-on placebo and that there was a significant difference in seizure reduction between felbamate and placebo (P = 0.0005 and P = 0.018, respectively). The third study reported a 14% reduction in seizure frequency with add-on felbamate but stated that the difference between treatments was not significant. There were conflicting results regarding treatment withdrawal. One study reported a higher treatment withdrawal for placebo-randomised participants, whereas the other three studies reported higher treatment withdrawal rates for felbamate-randomised participants. Notably, the treatment withdrawal rates for felbamate treatment groups across all four studies remained reasonably low (less than 10%), suggesting that felbamate may be well tolerated. Felbamate-randomised participants most commonly withdrew from treatment due to adverse effects. The adverse effects consistently reported by all four studies were: headache, dizziness and nausea. All three adverse effects were reported by 23% to 40% of felbamate-treated participants versus 3% to 15% of placebo-treated participants.We assessed the evidence for all outcomes using GRADE and found it as being very-low certainty, meaning that we have little confidence in the findings reported. We mainly downgraded evidence for imprecision due to the narrative synthesis conducted and the low number of events. We stress that the true effect of felbamate could likely be significantly different from that reported in this current review update. AUTHORS' CONCLUSIONS: In view of the methodological deficiencies, the limited number of included studies and the differences in outcome measures, we have found no reliable evidence to support the use of felbamate as an add-on therapy in people with drug-resistant focal-onset epilepsy. A large-scale, randomised controlled trial conducted over a longer period of time is required to inform clinical practice.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Felbamato/uso terapêutico , Humanos , Fenilcarbamatos/efeitos adversos , Fenilcarbamatos/uso terapêutico , Propilenoglicóis/efeitos adversos , Propilenoglicóis/uso terapêutico , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto
17.
Cochrane Database Syst Rev ; 8: CD009472, 2019 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-31453633

RESUMO

BACKGROUND: This is an updated version of the Cochrane Review previously published in the Cochrane Database of Systematic Reviews 2015, Issue 10. Epilepsy is a common neurological condition, characterised by recurrent seizures. Most people respond to conventional antiepileptic drugs, however, around 30% will continue to experience seizures, despite treatment with multiple antiepileptic drugs. Sulthiame, also known as sultiame, is a widely used antiepileptic drug in Europe and Israel. We present a summary of the evidence for the use of sulthiame as add-on therapy in epilepsy. OBJECTIVES: To assess the efficacy and tolerability of sulthiame as add-on therapy for people with epilepsy of any aetiology compared with placebo or another antiepileptic drug. SEARCH METHODS: For the latest update, we searched the Cochrane Register of Studies (CRS Web), which includes the Cochrane Epilepsy Group's Specialized Register and CENTRAL (17 January 2019), MEDLINE Ovid (1946 to January 16, 2019), ClinicalTrials.gov and the WHO ICTRP Search Portal (17 January 2019). We imposed no language restrictions. We contacted the manufacturers of sulthiame, and researchers in the field to seek any ongoing or unpublished studies. SELECTION CRITERIA: Randomised controlled trials of add-on sulthiame, with any level of blinding (single, double or unblinded) in people of any age, with epilepsy of any aetiology. DATA COLLECTION AND ANALYSIS: Two review authors independently selected trials for inclusion, and extracted relevant data. We assessed these outcomes: (1) 50% or greater reduction in seizure frequency between baseline and end of follow-up; (2) complete cessation of seizures during follow-up; (3) mean seizure frequency; (4) time-to-treatment withdrawal; (5) adverse effects; and (6) quality of life. We used intention-to-treat for primary analyses. We presented results as risk ratios (RR) with 95% confidence intervals (CIs). However, due to the paucity of trials, we mainly conducted a narrative analysis. MAIN RESULTS: We included one placebo-controlled trial that recruited 37 infants with newly diagnosed West syndrome. This trial was funded by DESITIN Pharma, Germany. During the study, sulthiame was given as an add-on therapy to pyridoxine. No data were reported for the outcomes: 50% or greater reduction in seizure frequency between baseline and end of follow-up; mean seizure frequency; or quality of life. For complete cessation of seizures during a nine-day follow-up period for add-on sulthiame versus placebo, the RR was 11.14 (95% CI 0.67 to 184.47; very low-certainty evidence), however, this difference was not shown to be statistically significant (P = 0.09). The number of infants experiencing one or more adverse events was not significantly different between the two treatment groups (RR 0.85, 95% CI 0.44 to 1.64; very low-certainty evidence; P = 0.63). Somnolence was more prevalent amongst infants randomised to add-on sulthiame compared to placebo, but again, the difference was not statistically significant (RR 3.40, 95% CI 0.42 to 27.59; very low-certainty evidence; P = 0.25). We were unable to conduct meaningful analysis of time-to-treatment withdrawal and adverse effects due to incomplete data. AUTHORS' CONCLUSIONS: Sulthiame may lead to a cessation of seizures when used as an add-on therapy to pyridoxine in infants with West syndrome, however, we are very uncertain about the reliability of this finding. The included study was small and had a significant risk of bias, largely due to the lack of details regarding blinding and the incomplete reporting of outcomes. Both issues negatively impacted the certainty of the evidence. No conclusions can be drawn about the occurrence of adverse effects, change in quality of life, or mean reduction in seizure frequency. No evidence exists for the use of sulthiame as an add-on therapy in people with epilepsy outside West syndrome.Large, multi-centre randomised controlled trials are needed to inform clinical practice, if sulthiame is to be used as an add-on therapy for epilepsy.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Tiazinas/uso terapêutico , Quimioterapia Combinada , Feminino , Humanos , Lactente , Masculino , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto , Tiazinas/efeitos adversos
18.
Expert Opin Pharmacother ; 20(13): 1563-1574, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31373526

RESUMO

Introduction: Lennox-Gastaut syndrome (LGS) is a chronic, epileptic encephalopathy, characterized by multiple seizure types, distinctive slow spike-wave patterns in the electroencephalogram (EEG), and severe cognitive and behavioral comorbidities. Seizures are typically refractory and long-term prognosis is poor. No antiseizure drug (ASD) is fully effective as a monotherapy. Clobazam (CLB) was licensed in the United States in 2011 as an adjunctive therapy for seizures in LGS. In 2018, a new formulation, CLB oral soluble film (COSF) (AQST-120), was approved by the Federal Drug Administration (FDA) for the same indication. Areas covered: The authors summarize current pharmacological options and guidelines for the management of seizures in LGS and efficacy and safety findings from phase II and III randomized controlled trials of adjunctive CLB in patients with LGS. An open-label extension trial is also considered. A pharmacokinetic comparison of COSF and CLB tablets is also undertaken. Expert opinion: CLB is partly effective as an add-on therapy in treating seizures in LGS. Adverse effects, pharmacokinetic interactions and the potential for tolerance with long-term treatment should be weighed against the clinical benefit when considering the introduction of CLB in this population. COSF has a similar pharmacokinetic profile to CLB tablets and may help to improve adherence to treatment.


Assuntos
Anticonvulsivantes/administração & dosagem , Clobazam/administração & dosagem , Síndrome de Lennox Gastaut/tratamento farmacológico , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Clobazam/efeitos adversos , Tolerância a Medicamentos , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Convulsões/tratamento farmacológico , Comprimidos
19.
Orv Hetil ; 160(34): 1353-1357, 2019 Aug.
Artigo em Húngaro | MEDLINE | ID: mdl-31423828

RESUMO

Myoclonus-dystonia (DYT11) is a rare, autosomal dominant hereditary disorder clinically characterized by myoclonus and/or dystonia. The disease is most commonly caused by the mutations of the SGCE gene. Causative therapy is not available currently. Regarding symptomatic treatment, zonisamide, insulin therapy, carbamazepine and zolpidem may be utilized. If these drugs are not effective, bilateral globus pallidus internus deep brain stimulation may come into consideration. The aim of this study is to demonstrate the efficacy of zonisamide treatment in a Hungarian patient with genetically proven myoclonus-dystonia. Our 25-year-old female patient has had jerky, lightning-like movements since her childhood, mainly localized to her right upper limb. In addition, muscle cramps associated with writing and walking were also present. The symptoms were reduced by alcohol consumption. Brain MRI did not show any abnormality. Neurophysiological studies raised the possibility of subcortical myoclonus. After detailed phenotyping, genetic testing was performed, yielding the diagnosis of myoclonus-dystonia. A heterozygous mutation in the 6th exon of the SGCE gene at the position 709, resulting in an early stop codon (c.709C> T, p.Arg237*) was demonstrated. After considering the risk-benefit ratio, we decided to start zonisamide treatment. The dose was titrated gradually to 300 mg/d over 6 weeks. Myoclonus- and dystonia-specific tests demonstrated significant improvement compared to the pre-treatment status. The aim of this case report is to draw attention to this rare condition, its treatment and the importance of collaboration between medical subspecialties. Orv Hetil. 2019; 160(34): 1353-1357.


Assuntos
Distúrbios Distônicos/tratamento farmacológico , Mioclonia/complicações , Zonisamida/uso terapêutico , Adulto , Anticonvulsivantes/uso terapêutico , Criança , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/genética , Feminino , Humanos , Mioclonia/genética
20.
Brain Nerve ; 71(8): 901-910, 2019 Aug.
Artigo em Japonês | MEDLINE | ID: mdl-31346147

RESUMO

We evaluated the efficacy and safety of lorazepam (LZP) 4 mg for adults (age, 16 years old or older) or 0.05mg/kg for children (age, 3 months to less than 16 years) as a slow intravenous injection in 26 Japanese patients with status epilepticus or repetitive seizures. The proportion of patients whose initial seizure stopped within 10 minutes and who continued seizure-free for at least 30 minutes after the completion of initial dose as the primary endpoint was 48.0% (12/25, 95%CI: 27.8%-68.7%). However, the proportion of patients whose seizures stopped within 10 minutes and who continued seizure-free for at least 30 minutes after the completion of either initial or second dose (in 10 to 30 minutes from the initial dose) was 64.0% (16/25, 95%CI: 42.5%-82.0%) in total, and 77.8% and 56.3% in adults and children, respectively. The most common adverse events (AEs) were somnolence (7.7%) and insomnia (7.7%), and almost all AEs were mild or moderate in severity. No patient experienced serious or severe LZP-related AEs. No one discontinued the study due to AEs.


Assuntos
Anticonvulsivantes/uso terapêutico , Lorazepam/uso terapêutico , Convulsões/tratamento farmacológico , Estado Epiléptico/tratamento farmacológico , Adolescente , Adulto , Anticonvulsivantes/efeitos adversos , Criança , Pré-Escolar , Humanos , Injeções Intravenosas , Lorazepam/efeitos adversos
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