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Epilepsy
别称:
Epilepsy Syndrome
|
Epilepsy Due to Genetic Syndromes with Widespread or Progressive Effects
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Epilepsy Due to Unspecified Structural or Metabolic Condition or Disease
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Epilepsy Due to Multiple Sclerosis or Other Demyelinating Disorders
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Epilepsy Due to Other Structural or Metabolic Condition or Disease
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Epilepsy Due to Central Nervous System Infections or Infestations
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Epilepsy Due to Unspecified Prenatal or Perinatal Brain Insults
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Epilepsy Due to Structural or Metabolic Conditions or Diseases
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Epilepsy Due to Other Prenatal or Perinatal Brain Insults
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Epilepsy Due to Neonatal Hypoxic Ischemic Encephalopathy
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Epilepsy Due to Prenatal or Perinatal Vascular Insults
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Epilepsy Due to Prenatal or Perinatal Brain Insults
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Epilepsy Due to Abnormalities of Brain Development
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Epilepsy Due to Tumours of the Nervous System
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Epilepsy Due to Degenerative Brain Disorders
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Epilepsy Due to Neuronal Migration Disorders
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Epilepsy Due to Cerebrovascular Disorders
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Epilepsy with Mesial Temporal Sclerosis
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Epilepsy Due to Hippocampal Sclerosis
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Epilepsy Due to Injuries to the Head
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Epilepsy with Ammon's Horn Sclerosis
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Epilepsy Due to Cortical Dysplasia
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Epilepsy Due to Immune Disorders
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Epilepsy Due to Dementias
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Post Traumatic Epilepsy
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Symptomatic Epilepsies
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Traumatic Epileptic
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Epileptic Syndrome
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Traumatic Epilepsy
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Epilepsies
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures resulting from abnormal electrical activity in the brain. Seizures can vary in symptoms from brief lapses of awareness to convulsions. The condition can be diagnosed after at least two unprovoked seizures occurring more than 24 hours apart, or even after a single seizure if there is a high risk of recurrence. Causes of epilepsy include genetic factors, brain injury, infections, or brain tumors. Treatment involves anti-seizure medications, lifestyle changes, and sometimes surgical interventions. Medication can help control seizures for most individuals, but about 3 out of 10 people may still experience regular seizures. Epilepsy can affect individuals of any age, with symptoms varying among individuals and potentially leading to loss of consciousness or uncontrollable movements. Seizures may be triggered by factors such as structural or metabolic conditions, strokes, brain disorders, or traumatic brain injuries. Additionally, epilepsy can be associated with degenerative brain disorders, CNS infections, intracranial tumors, mesial temporal sclerosis, immunological disorders, disorders of cortical development, or genetically determined conditions.
相关ID:
MALACARDS: EPL164
|
MESH: D004827
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ICD11: 1007173668
基础信息
遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
Ot
其他
未知
--
4116
29201
17
EPL164
疾病表征
当前疾病关联的表型信息:
分类:疾病表征所属解剖分类;
HPO概率/Orphanet概率:对应表征在当前疾病的发生概率,可根据发生概率进行排序;
HPO来源:跳转至HPO查看表征详情。
数据来源:HPO、Orphanet
基因 & 突变
当前疾病关联的基因及其突变:
作用分类:基因的主要生物学作用;
分值:疾病与基因之间的关联强度,分值越高,关联越紧密;
突变数量:疾病与基因相关的突变数量,括号内数字为同一Clinvar ID关联的数据总量,点击数字即可查看突变详情。
数据来源:Clinvar
靶点药物
与当前基因相关药物,展示CAS号、研发与临床试验状态。
数据来源:Clinical Trials
相关模型
当前基因相关的小鼠模型,点击模型名称,可查看模型详情。
数据来源:MGI
文献报道
当前基因最为密切相关的文献,可按年份、文献类型筛选,并可根据影响因子排序。
数据来源:Uniprot、PubMed
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