Method for assessment of potential for development of dravet syndrome and use thereof

a potential development and dravet syndrome technology, applied in the field of assessing a potential development potential of dravet syndrome, can solve the problems of easy induced convulsion seizure, hinder motivation, and worsen the effect of dravet syndrome and intractableness

Inactive Publication Date: 2013-02-07
UNIV OKAYAMA
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

The present invention provides a method for assessing the potential for development of Dravet syndrome by detecting mutations in both the α-subunit type 1 of voltage-gated sodium ion channel NaV1.1 and α-subunit type 1 of voltage-gated calcium ion channel CaV2.2. The discovery that mutations on both genes are related to the severity and intractability of Dravet syndrome highlights the importance of detecting mutations in both genes for accurate diagnosis and treatment of the disease. The method can also help in identifying novel treatments for Dravet syndrome by providing data on the potential for development of the disease.

Problems solved by technology

Moreover, this convulsion seizure is easily induced by fever or bathing.

Method used

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  • Method for assessment of potential for development of dravet syndrome and use thereof
  • Method for assessment of potential for development of dravet syndrome and use thereof
  • Method for assessment of potential for development of dravet syndrome and use thereof

Examples

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example 1

Identification of Risk Factors for Predicting Development of Dravet Syndrome

[0264]DNA were extracted from peripheral blood of 47 Dravet syndrome patients who visited Okayama University Hospital and / or its related hospitals, and mutations on various genes were analyzed. This study was performed upon receiving approval from Okayama University, Institutional Review Board of Human Genome and Gene Analysis Research.

[0265]More specifically, a genomic DNA was extracted from peripheral blood of a patient with use of a DNA extraction kit (WB kit; Nippon gene, Tokyo, Japan), and all exons were amplified by PCR. In PCR, a reaction solution of 25 μl was used, which includes 50 ng of human genomic DNA, 20 μmol of various primers, 0.8 mM of dNTPs, 1 reaction buffer, 1.5 mM of MgCl2, and 0.7 units of AmpliTaq Gold DNA polymerase (Applied Biosystems, Foster City, Calif., USA). As to the nucleotide sequence (SEQ ID NOs.: 9-62) of the primer pair used, see “Sequence of primers” described later.

[0266]...

example 2

Study of Gene Mutation in Benign Febrile Seizure Patient

[0295]A study was performed of a SCN1A gene and CACNA1A gene abnormality in a benign febrile seizure patient. DNA was extracted from peripheral blood of 50 patients of benign generalized epilepsy with febrile seizure plus (GEFS+), who visited Okayama University Hospital and / or its related hospitals, and mutations on various genes were analyzed. The DNA extraction, PCR amplification of the gene, and sequencing reactions were performed by the methods described above.

[0296]First, mutation analysis of voltage-gated sodium ion channel SCN1A gene was performed, which resulted in detecting gene mutation that caused amino acid changes in 6 patients. Next, mutation analysis was performed for 9 kinds of mutations of missense mutations and deletion mutations that were detected in the coding region of the CACNA1A gene, which resulted in detecting a mutation in 16 patients. Each of the mutations are shown in Table 5.

TABLE 5SCN1A and CACNA1A...

example 3

Study of Gene Mutation in a Healthy Person

[0302]To investigate whether the remaining 6 kinds of gene mutations excluding the registered 3 kinds out of the 9 kinds of missense mutations and deletion mutations detected in the coding region of the CACNA1A gene are of the gene polymorphism (SNP), gene mutation of the CACNA1A gene was similarly analyzed for DNA extracted from blood of 190 healthy persons. Results of the 9 kinds of the missense mutations and deletion mutations detected in the coding region of the CACNA1A gene are shown in Table 6. As a result, one kind of the CACNA1A gene mutation (G266S) was not detected from the healthy persons. From this result, it was found that the CACNA1A gene mutation of G266S is not an SNP, and is a novel gene mutation (gene abnormality) not found in the 190 healthy persons, which neither is in the NCBI SNP database.

TABLE 6CACNA1A gene mutation detected in healthy persons and Dravet syndromeNucleotideAmino AcidControlExonSubstitutionSubstitutionDr...

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Abstract

Provided is a method of assessing a potential for development of Dravet syndrome with high accuracy, and use thereof. The method according to the present invention of assessing a potential for development of Dravet syndrome includes, with use of a sample taken from a subject, detecting whether or not a mutation is on α-subunit type 1 of voltage-gated sodium ion channel NaV1.1, and detecting whether or not a mutation is on α-subunit type 1 of voltage-gated calcium ion channel CaV2.1.

Description

TECHNICAL FIELD[0001]The present invention relates to a method for assessing a potential for development of Dravet syndrome, and use thereof.BACKGROUND ART[0002]Febrile seizure is a disease that has a high incidence rate of approximately 8% in infants. A main symptom of febrile seizure is known as a continuation of generalized convulsions for 1 to 5 minutes while suffering a fever at or over 38° C. caused by a viral or bacterial infection such as a cold, or microbism. Most cases of febrile seizure that have an onset of between 6 months after birth and around 5 years old cure by the time when the patient turns 6 years old. In many cases, febrile seizure does not require active treatment. Therefore, febrile seizure is considered, in principle, as a benign disease.[0003]However, among patients whose onset of febrile seizure was under the age of one, other than the patients of the benign disease which cease as a regular febrile seizure, there are some patients who suffer from convulsion...

Claims

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Application Information

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IPC IPC(8): A01K67/027C12N5/10G01N33/53G01N33/50C12Q1/68C12Q1/02C12N15/01
CPCG01N33/6896G01N33/1826C12Q2600/156A61K49/0008C12Q1/6883G01N2800/50A01K67/027A01K2227/10G01N33/6872G01N2500/00G01N33/5088G01N33/5008A01K67/0275G01N33/18A01K2267/0306G01N2800/2857
Inventor OHMORI, IORIOUCHIDA, MAMORU
Owner UNIV OKAYAMA
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