Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant

被引：3

作者：

Nielsen, Trine Ostergaard ^{[1
]}

Herlin, Morten Krogh ^{[1
]}

Linnet, Karen Markussen ^{[2
]}

Beniczky, Sandor ^{[3
]}

Sommerlund, Mette ^{[4
]}

Granild-Jensen, Jakob Bie ^{[5
]}

Gregersen, Pernille Axel ^{[1
,6
]}

机构：

[1] Aarhus Univ Hosp, Dept Clin Genet, Brendstrupgaardsvej 21 C, DK-8200 Aarhus N, Denmark

[2] Aarhus Univ Hosp, Pediat & Adolescent Med, Aarhus, Denmark

[3] Aarhus Univ Hosp, Dept Clin Neurophysiol, Aarhus, Denmark

[4] Aarhus Univ Hosp, Dept Dermatol, Aarhus, Denmark

[5] Randers Cent Hosp, Pediat & Adolescent Med, Randers, Denmark

[6] Aarhus Univ Hosp, Ctr Rare Dis Pediat & Adolescent Med, Aarhus, Denmark

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2022年 / 65卷 / 03期

关键词：

ADSHE; ADNFLE; Sleep-related hypermotor epilepsy; CHRNA4; Nocturnal epilepsy; PATHOGENICITY;

D O I：

10.1016/j.ejmg.2022.104444

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a rare heritable form of epilepsy. It is characterized by hypermotor seizures occurring mainly during sleep. Seizures are typically abrupt in onset and offset and tend to increase in complexity and duration during the night.ADSHE is inherited in an autosomal dominant manner, and penetrance is estimated to be 70%. We describe two brothers with ADSHE with a previously unreported variant in CHRNA4, and the effect of medical treatment with carbamazepine. We highlight the relevance of genetic testing in patients with atypical and clustering episodes of nightmares, night terrors, or panic attacks, as these patients could be misdiagnosed, and instead be suffering from ADSHE, a potentially treatable condition.

引用

页数：5

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