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METHOD FOR ASSESSMENT OF POTENTIAL FOR DEVELOPMENT OF DRAVET SYNDROME AND USE THEREOF

外国特許コード F120006375
整理番号 S2010-0384-C0
掲載日 2012年3月27日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2011JP051636
国際公開番号 WO 2011093393
国際出願日 平成23年1月27日(2011.1.27)
国際公開日 平成23年8月4日(2011.8.4)
優先権データ
  • 特願2010-018705 (2010.1.29) JP
発明の名称 (英語) METHOD FOR ASSESSMENT OF POTENTIAL FOR DEVELOPMENT OF DRAVET SYNDROME AND USE THEREOF
発明の概要(英語) Provided are a method for the high-precision assessment of the potential for the development of Dravet syndrome, and the use thereof. The method for assessment of the potential for the development of Dravet syndrome comprises: a step for detecting mutation in the α-subunit 1 type of voltage-gated sodium ion channel (Nav1.1); and a step for detecting mutation in the α-subunit 1 type of voltage-gated calcium ion channel (Cav2.1), both of which use a sample isolated from a subject.
従来技術、競合技術の概要(英語) BACKGROUND ART
Febrile convulsions a child about 8% found in a high incidence of the disease. As the dominant symptoms of a febrile convulsions, such as the common cold virus infections such as bacterial infection with heat generation of 38 °C or more, 1-5 for a duration of the systemic spasm is known. 6 Months to 5 years old by the time a febrile convulsions is developing between, the majority of the cases by age 6 healing. For febrile convulsions, aggressive treatment is not required in many cases. For this reason, febrile convulsions is, in principle considered benign disease.
However, patients under the age of 1 develop some of the heat cramps, convulsions as normal heat addition to patients with benign disease to the column, even after a 6 - year-old patient and the duration of convulsions, Dravet syndrome (previously "severe myoclonic epilepsy (Severe Myoclonic Epilepsy in Infancy infant; SMEI) " and was called.) That are mixed in the refractory epilepsy patients.
Dravet syndrome patients, convulsions onset under the age of 1. Convulsions Dravet syndrome the average age of onset in a patient, the age of 4 months to 6 months. Convulsions in a patient starting Dravet syndrome Stroke is, in general, clonic or tonic clonic systemic or to one side of-and convulsions, spasms in the a-phase status epilepticus infant often adversely affected. In addition, the spasms Stroke is, more likely to be induced by heat generation or bathing.
Conventional, febrile convulsions is, in general pediatric surgeon and the surgeon or home diagnosis and treatment, also for the diagnosis of Dravet syndrome, stroke and the like spasms of the characteristic clinical symptoms based on Dravet syndrome are carried out. However, the clinical symptoms of Dravet syndrome appear all together and around 2-3 years of age, many times Dravet syndrome patients repeatedly spasm, such as status epilepticus, often experiencing dangerous condition. For this reason, the primary care physician and pediatric surgeon is engaged in a general home, as soon as Dravet syndrome can be detected is a need for the development of diagnostic methods. Earlier Dravet syndrome if can be detected, it is possible to adapt the specialist epilepsy in advance, the patient can be prevented from becoming a critical state becomes possible.
In recent years, in the patient's 30-80% Dravet syndrome, voltage-gated NaV 1.11 constituting the α subunit in the gene encoding SCN1A-type, missense mutations (mutations involving amino acid substitutions), and nonsense mutations (mutations may stop in the middle of protein synthesis) there have been reported (non-patent document 1 and 2). From this point of view, to examine the abnormality of the SCN1A gene, at the gene level diagnosis Dravet syndrome are attempts have been made.
For example, in patent document 1-4, wherein the mutation in SCN1A, severe myoclonic epilepsy infant (SEMI) disclosed to be involved. In addition, SCN1A mutations in the gene as an index, severe myoclonic epilepsy can be diagnosed infant is disclosed.
Specifically, the patent document 1, the SCNA1A gene associated with a plurality of SMEI comprehensive gene mutations by making a diagnosis of SMEI is disclosed.
Patent Document 2 is, in the gene in the nerve SMEI SCN1A any of the genetic variant-frequency generated by detecting the presence or absence of, and an apparatus for diagnosing SMEI disclosed.
Patent Document 3 and 4 is, detecting changes in the SCN1A gene, the change, or related SMEI SMEI syndrome is known to be associated with, or related SMEI SMEI or not associated with the syndrome known by checking whether or not the, or SMEI epilepsy syndromes SMEI syndrome related to the disclosed are methods for diagnosing.
  • 出願人(英語)
  • ※2012年7月以前掲載分については米国以外のすべての指定国
  • NATIONAL UNIVERSITY CORPORATION OKAYAMA UNIVERSITY
  • 発明者(英語)
  • OHMORI, Iori
  • OUCHIDA, Mamoru
国際特許分類(IPC)
指定国 National States: AE AG AL AM AO AT AU AZ BA BB BG BH BR BW BY BZ CA CH CL CN CO CR CU CZ DE DK DM DO DZ EC EE EG ES FI GB GD GE GH GM GT HN HR HU ID IL IN IS JP KE KG KM KN KP KR KZ LA LC LK LR LS LT LU LY MA MD ME MG MK MN MW MX MY MZ NA NG NI NO NZ OM PE PG PH PL PT RO RS RU SC SD SE SG SK SL SM ST SV SY TH TJ TM TN TR TT TZ UA UG US UZ VC VN ZA ZM ZW
ARIPO: BW GH GM KE LR LS MW MZ NA SD SL SZ TZ UG ZM ZW
EAPO: AM AZ BY KG KZ MD RU TJ TM
EPO: AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
OAPI: BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG

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