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- Case Report ATP1A2 유전자 변이를 동반한 가족성 반신마비 편두통의 국내 첫 보고
- 이 근1, 고승연2,3, 이주연4, 김태준1,2
- First Report of a Korean Family with Familial Hemiplegic Migraine
- Keun Lee1, Seungyon Koh2,3, Joo-Yeon Lee4, Tae-Joon Kim1,2
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Korean Journal of Headache 2023;24(1):24-27
Published online: June 30, 2023
2아주대학교 의과대학 신경과학교실
3뇌과학교실
4서울대학교 보건환경연구소
1Department of Neurology, Ajou University Hospital, Suwon
2Department of Neurology, Ajou University Hospital, Suwon
3Brain Science, Ajou University School of Medicine, Suwon
4Institute of Health and Environment, Seoul National University, Seoul, Korea
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Corresponding author:
Tae-Joon Kim, Tel: +82-31-219-5175, Fax: +82-31-219-5178,
Email: tjkim23@ajou.ac.kr
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Abstract
We report a case of a Korean family with familial hemiplegic migraine type 2 (FHM2) carrying a heterozygous c.901G>A (p.G301R) mutation in the ATP1A2 gene. FHM is a subtype of migraine with a family history characterized by reversible hemiparesis and cortical symptoms that can last for hours to days. In Korea, there was only one case of sporadic hemiplegic migraine with ATP1A2 mutation, and no FHM2 family case was reported. The G301R mutation in ATP1A2 is a known pathogenic variant, previously reported in two Italian families. Our patient experienced repeated hemiplegic migraine with prolonged aura attacks with altered states of consciousness, and a clear pattern of autosomal dominance was observed in the family history. The patient, like typical FHM, has fully recovered within days. We report the first case of FHM2 Korean families with this mutation and highlight the importance of genetic testing for individuals with hemiplegic migraine.
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