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[经基因验证的2型家族性偏瘫性偏头痛家族中的表型变异性]

[Phenotypic variability in a family with genetically verified familial hemiplegic migraine type 2].

作者信息

Hogaard Nina, Klit Henriette, Vogel Ida, Thelle Thomas

机构信息

Børneafdeling B, Regionshospitalet Viborg, Heibergs Allé 4, 8800 Viborg.

出版信息

Ugeskr Laeger. 2015 Jan 26;177(2A):48-9.

Abstract

After playing handball, a 13-year-old girl developed a comatose condition during 7-10 days with hemiparesis and aphasia. From age three to nine she was treated for partial epilepsy. She never had symptoms of migraine. Her father had childhood epilepsy and at the age of 40 and 44 he experienced two attacks with prolonged coma, fever, seizures, hemiparesis and aphasia. His mother had symptoms of severe hemiplegic migraine. Father and daughter were genetically tested and an earlier described mutation in ATP1A2 gene was found. These cases illustrate the phenotypic variability in familial hemiplegic migraine type 2.

摘要

一名13岁女孩在打完手球后,在7至10天内出现昏迷状态,伴有偏瘫和失语。从3岁到9岁,她接受过部分癫痫的治疗。她从未有过偏头痛症状。她的父亲童年时有癫痫,在40岁和44岁时经历过两次发作,伴有长时间昏迷、发热、癫痫、偏瘫和失语。他的母亲有严重偏瘫性偏头痛的症状。对父亲和女儿进行了基因检测,发现了先前描述的ATP1A2基因突变。这些病例说明了家族性偏瘫性偏头痛2型的表型变异性。

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