• Title/Summary/Keyword: Convulsions

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A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)

  • Park, Bo Mi;Kim, Young Ok;Kim, Myeong-Kyu;Woo, Young Jong
    • Journal of Genetic Medicine
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    • v.16 no.1
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    • pp.19-22
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    • 2019
  • The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.

Unprovoked seizures in children with complex febrile convulsion; short-term outcome (복합 열성 경련 후 간질 발생 환아의 임상적 고찰; 단기 추적 관찰 결과)

  • Choi, Ji Yeon;Cheon, Eun Jung;Lee, Young Hyuk
    • Clinical and Experimental Pediatrics
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    • v.50 no.8
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    • pp.757-760
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    • 2007
  • Purpose : Febrile convulsions (FC) were considered to be a benign seizure syndrome that is distinct from epilepsy. But it is thought that children with complex features i.e., partial or prolonged seizures or multiple episodes of FC would bear a higher risk of developing unprovoked seizures. The aim of this study is to look into the relative significance of each criteria that define complex febrile convulsions (CFC) as a predictor of subsequent epilepsy. Methods : All children were retrospectively identified for a febrile seizure through pediatric departments of the Konyang University Hospital. Information was collected from medical records and interviews with parents. Patients with abnormal neurological examinations at presentation were excluded. Results : This study was performed from March 2000 to December 2003. Sixty-three out of 314 children (20.0%) with febrile convulsion fulfilled the criteria for CFC and forty-four children of them have been followed for 12 months or more. Ten of these (23.2%) had unprovoked seizures for 14-62 months (median $34.2{\pm}11.6$ months). The patients with partial FC showed a trend toward a higher risk (57.1%) of developing epilepsy than the patients with multiple or prolonged febrile convulsions (26.7%, 24.1% respectively). Conclusion : We found that the partial feature of febrile convulsion is associated with subsequent epilepsy.

Convulsions with Noroviral Gastroenteritis in Children at a Single Center in Korea (단일 센터에서 경험한 소아에서의 노로바이러스 위장관염과 연관된 양성 경련)

  • Kang, SooYeon;Lee, Hyun Ju;Kim, Shin Hye
    • Journal of the Korean Child Neurology Society
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    • v.26 no.4
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    • pp.233-239
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    • 2018
  • Purpose: Viral gastroenteritis is a common disease in infants and children. Seizures can be associated with viral gastroenteritis as benign convulsions with mild gastroenteritis (CwG). After the development of the rotavirus vaccination, norovirus has become inreasingly significant in children. We retrospectively analyzed the clinical features in a pediatric population presenting with seizures and confirmed enteral viral infections, especially norovirus infections. Methods: We retrospectively reviewed the medical records of pediatric patients aged <15 years admitted due to convulsions and gastroenteritis to the Department of Pediatrics of Myongji Hospital between July 2014 and June 2016. Results: A total of 46 patients (24 male and 22 female) were included. Norovirus was detected in 21 (45.7%) patients, adenovirus in three (6.5%), rotavirus in two (4.3%), astrovirus in one (2.2%), and none of agents were detected in 19 (41.3%) patients. Patients in the norovirus gastroenteritis (NGE) group had a higher incidence of diarrhea than that among in the non-norovirus gastroenteritis (NNGE) group (61.9% vs 28.0%; P<0.05). Twelve patients experienced status epilepticus, including five (23.8%) in the NGE group and seven (33.0%) in the NNGE group (P=0.837). Seizures were effectively terminated by intravenous benzodiazepines in 8 (66.7%) of 12 patients. Additional long-acting antiepileptic drugs such as fosphenytoin or levetiracetam were required in three (25%) of 12 patients. Conclusion: Patients with CwG with and without noroviurs infection did not differ in terms of clinical features. However, status epilepticus was not uncommon among patients with CwG by definition.

Systemic Review on The Research Trend of Gastrodiae Rhizoma and Relationship Between the Herbology and KCD-code (천마(天麻)의 국내,외 연구동향과 『본초학』, 한국표준질병사인분류의 상관관계에 대한 체계적 문헌고찰)

  • Kim, Hyun-Seok;Lee, Soong-In;Jeong, Jong-Kil
    • The Korea Journal of Herbology
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    • v.31 no.2
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    • pp.21-37
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    • 2016
  • Objectives : The study was aimed to analyze the correlation between Herbology and contemporary research results, KCD-codes and terms. The study will present information that can be used to find the direction of further researches and be applied to the education of Herbology.Methods : Papers were searched in OASIS and PubMed. Papers were then categorized as "medicine and pharmacy articles" or "articles unrelated to medicine and pharmacy." Medicine or pharmacy articles about Gastrodiae Rhizoma were matched with treatments in Herbology and KCD-codes. Medicine and pharmacy articles which did not research Gastrodiae Rhizoma mainly and articles unrelated to medicine and pharmacy were categorized and analyzed. KCD-codes and terms were arranged by treatments in Herbology. Research types, the number of papers, and the citation count were arranged by each treatment in Herbology. Degrees of Herbology research were represented as a table and a graph.Results : There were 148 Medicine and pharmacy articles about Gastrodiae Rhizoma, 76 medicine and pharmacy articles which did not studied Gastrodiae Rhizoma mainly, and 120 articles unrelated to medicine and pharmacy. Researches on Senility and hypertensive diseases were conducted to the degree of clinical research. Numbness of the limbs scored 617, Epilepsy and convulsions scored 257.Conclusions : The study suggests that there were 148 medicine and pharmacy articles about Gastrodiae Rhizoma. Epilepsy and convulsions were the most researched treatment in Herbology. Of the medicine and pharmacy articles tha t did not match treatments in Herbology, there were clinical research articles researching on senility which can be used in the Herbology education field.

Antiepileptical Properties Of Ginsenosides From Korean Red Ginseng And Ginseng Cell Culture (Dan25)

  • ChepurnovS.A.;Park, Jin-Kyu;vanLuijtelaarE.L.J.M;ChepurnovaN.E.;StrogovS.E.;MikhaylovaO.M.;ArtukhovaM.V.;BerdievR.K.;GoncharovO.B.;SergeevV.I.;TolamachevaE.A.
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2000.10a
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    • pp.116-122
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    • 2000
  • The molecular modification of antiepileptic drugs and direct synthesis of new drugs with the predetermined antiepileptic properties are perspective. New neurochemical attacking to solve the problem including prevention and inhibition of seizures seems to be related to ginsenosides and ginseng polypeptides. The main study based on the severity of febrile convulsions of rat pups has been done from the earlier investigations of antiepileptical action of ginsenosides between KGTRI and MSU (Chepurnov, Park et al., 1995) with different kinds of experimental models of epilepsy. From the cultured cell line DAN25 of ginseng root, the extracts of ginsenosides made in "BIOKHIMMASH" were studied by the project of preclinical anticonvulsant screening (Stables, Kupferberg, 1997). The inhibition of severity of convulsions, decrease of seizures threshold, decrease of audiogenic seizures in rats of different strains and normalization of cerebral blood flow (measured by hydrogen test) were demonstrated in rats after i.c.v., intraperitoneally and orally administration, respectively. The antiepileptical effects by the combination of compounds from ginseng; were compared with the iuluence of Rg1, Rb1, Rc and with the well known antiepileptical drugs such as carbamazepine, valproic acid. The base for the research is obtained by using the WAG/Rij strain (Luijtelaar, Coenen, Kuznetcova), an excellent genetic model for human generalized absence epilepsy. The improving action of gensinosides was effectively demonstrated on the model of electrical kindling of amygdala of WAG/Rij rats with genetically determined absences, and the influences of ginsenosides on the slow wave discharges have also been being investigated. The different characteristics of a kindling process exerted in the sex-different region of the amygdala and demonstrated that the level of sex steroids and content of neurosteroids in amygdaloid tissue can modify the development of seizures. The chemical structures of ginsenosides not only have some principal differences from well-known antiepileptical drugs but the Plant Pharmacology gives us unique possibility to develop new class of antiepileptic drugs and to improve its biological activity.

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A case of various clinical aspects associated with cardiotoxicity after glufosinate poisoning (글루포시네이트 중독 후 심장독성의 다양한 임상경과를 보인 1례)

  • Kim, Seon Tae
    • Journal of The Korean Society of Clinical Toxicology
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    • v.19 no.2
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    • pp.133-138
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    • 2021
  • Glufosinate-containing herbicides is a non-selective herbicide commonly used worldwide. As the use of them increased gradually since paraquat was banned in 2012, the number of suicides by their ingestion is also increasing continuously. Complications of glufosinate-containing herbicide poisoning include various central nervous system (CNS) toxicities such as convulsions, loss of consciousness, memory impairment, and respiratory depression, which may be accompanied by hemodynamic changes such as bradycardia and hypotension. However, it is very rare that arrhythmias other than bradycardia occurred and Takotsubo cardiomyopathy was combined due to cardiotoxicity. A 71-year-old female patient was transferred to our hospital after ingesting 500 mL of glufosinate-containing herbicide and receiving 5 L of gastric lavage at a local hospital. A few hours later, she presented stuporous mentality, respiratory depression, and convulsions, and was accompanied by hypotension and bradycardia. On the second day of admission, electrocardiogram (ECG) showed bradycardia and QTc prolongation with hemodynamic Instability. Accordingly, we conducted the early treatment with continuous renal replacement therapy (CRRT) and the application of temporary cardiac pacemaker. An echocardiogram demonstrated decreased ejection fraction (EF) and Takotsubo cardiomyopathy on the third day of admission. Then, she was discharged safely with conservative treatment. At the follow-up after 1 year, Takotsubo cardiomyopathy, EF and QTc prolongation were recovered on echocardiogram and ECG. Because cardiac toxicity after glufosinate-containing herbicide poisoning may cause life-threatening consequences, caution is required while treating the patient. Therefore, if electrocardiogram changes are seen in the elderly with a large amount of glufosinate herbicide ingestion, additional cardiac function test through echocardiography should be concerned, and early treatment through CRRT or artificial cardiac pacing should be considered.

Anticonvulsant potential of some traditional medicinal plants

  • Asif, Mohammad
    • CELLMED
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    • v.4 no.1
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    • pp.1.1-1.13
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    • 2014
  • Epilepsy has now become the most serious brain disorder. A number of synthetic antiepileptic drugs are available in practice, however their effectiveness does not grip true with the entire population suffering from epilepsy. Traditional systems of medicine are popular in developing countries and most of the population relies on traditional medicines for their primary health care need. Medicinal plants to be an important source of traditional medicines. Various plants are used for the treatment of epilepsy in traditional system of medicines and various plants are yet to be scientifically investigated. Phyto-constituents have been the basis of treatment of human diseases including epilepsy. Herbal products are extensively used for the treatment of many diseases worldwide and where allopathic fails or has severe side effects. Psycho neural drugs are also have very serious side effects like physical dependence, tolerance, deterioration of cognitive function and effect on respiratory, digestive and immune system. So the treatments through herbal medicines are widely used across the world due to their wide applicability and therapeutic efficacy with least side effects, which in turn has accelerated the research regarding natural therapy. In this review we have summarized some herbal anti-epileptics.

EVALUATION FOR THE CONVULSIVE LIABILITY OF VARIOUS QUINOLONE DERIVATIVES IN MICE

  • Park, Kyung-Eob;Lim, Dong-Moon;Huh, Min-Do
    • Toxicological Research
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    • v.8 no.1
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    • pp.63-70
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    • 1992
  • The present study was performed to evaluate whether the application of Fenbufen is reasonable for predicting the convulsive liability of the quinolone derivatives and to examine whether pentylenetetrazole (PTZ) can be used as a screening tool for their Central Nervous System (CNS) toxic pontential. The convulsive activity of the quinolones was markedly potentiated by the pretreatment of Fenbufen. In combination with Fenbufen, enoxacin (ENX), norfloxacin (XFLX), and ciprofloxacin (CPFX) provoked convlusions and subsequent death at the intravenous doses of 0.5mg/kg, 10mg/kg, and 40mg/kg, respectively, whereas ofloxacin (OFLX) and pefloxacin (PFLX) did not induce convulsions and death even at a relatively high dose of 100mg/kg iv.

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CNS Activities of the Aqueous Extract of Hydrilla verticillata in Mice

  • Pal, Dilipkumar;Balasaheb, Nimse Satish;Khatun, Samina;Bandyopadhyay, Pranab Kumar
    • Natural Product Sciences
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    • v.12 no.1
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    • pp.44-49
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    • 2006
  • The aqueous extract of Hydrilla verticillata (AEHV) was tested for possible pharmacological effects on experimental animals. AEHV significantly potentiated the sleeping time of mice induced by standard hypnotics viz. pentobarbitone sodium, diazepam, and meprobamate in a dose dependent manner. AEHV showed significant analgesic properties as evidenced by the significant reduction in the number of writhes and stretches induced in mice by 1.2% acetic acid solution. It also potentiated analgesia induced by morphine and pethidine in mice. Pretreatment with AEHV caused significant protection against strychnine and leptazol-induced convulsions. The behavioral studies on mice indicate CNS depressant activity of the aqueous extract of H. verticillata.