结节状神经元异位
Nodular neuronal heterotopia
ORPHA:2149疾病
定义 英文原文（暂无中文）
A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁显性
- 发病年龄
- 各年龄段
相关基因 7来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ARF1 | ARF GTPase 1 | ORPHA:98892 |
| ARFGEF2 | ARF guanine nucleotide exchange factor 2 | ORPHA:98892 |
| ERMARD | ER membrane associated RNA degradation | ORPHA:98892 |
| FLNA | filamin A | ORPHA:98892 |
| MAP1B | microtubule associated protein 1B | ORPHA:98892 |
| NEDD4L | NEDD4 like E3 ubiquitin protein ligase | ORPHA:98892 |
| TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 | ORPHA:98892 |
临床表型 3
极常见 99–80%3
- 神经细胞迁移异常 HP:0002269
- 脑电图异常 HP:0002353
- 癫痫发作 HP:0001250
外部标识与链接
OrphanetOMIM:300049OMIM:608097OMIM:608098MONDO:0016292ICD-10 Q04.8ICD-11 LA05.5YClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）