Seizures, Benign Familial Infantile, 2 (BFIS2)

Alias:
Bfis2
Bfic2
Seizures, Benign Familial Infantile, Type 2
Convulsions, Benign Familial Infantile, 2
Benign Familial Infantile Convulsions 2
Benign Familial Infantile Convulsions-2
Benign Familial Infantile Seizures, 2
Benign Familial Infantile Seizures 2
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
2型良性家族性婴儿期惊厥,也称为bfis2,与伴有阵发性舞蹈手足徐动症和发作性运动诱发性肌张力障碍的家族性婴儿期惊厥有关。与2型良性家族性婴儿期惊厥相关的基因是PRRT2(富含脯氨酸的跨膜蛋白2)。相关组织包括大脑,相关表型为偏头痛和双侧强直-阵挛性惊厥。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
9
21

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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