Epilepsy, Nocturnal Frontal Lobe, 4 (ENFL4)

Alias:
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4
Epilepsy, Nocturnal Frontal Lobe, Type 4
Enfl4
Seizures, Benign Familial Infantile, 6
Epilepsy, Familial, with Nocturnal Wandering and Ictal Fear
Familial Epilepsy with Nocturnal Wandering and Ictal Fear
Convulsions, Benign Familial Infantile, 6
Epilepsy, Frontal Lobe, Nocturnal, Type 4
Nocturnal Frontal Lobe Epilepsy 4
Bfis6
Bfic6
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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
癫痫,夜间额叶,4型,又称常染色体显性夜间额叶癫痫4型,与常染色体显性夜间额叶癫痫和良性家族性婴儿1型癫痫有关,症状包括有刺痛感。与癫痫,夜间额叶,4型相关的重要基因是CHRNA2(乙酰胆碱受体尼古丁α2亚基)。相关组织包括舌和脑,相关表型为夜间发作和肌张力障碍。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
5
3

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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