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KMID : 0911820230240010024
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Korean Journal of Headache
2023 Volume.24 No. 1 p.24 ~ p.27
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First Report of a Korean Family with Familial Hemiplegic Migraine
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Lee Keun
Koh Seung-Yon
Lee Joo-Yeon
Kim Tae-Joon
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Abstract
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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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KEYWORD
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Familial hemiplegic migraine type 2, Human ATP1A2 protein, Korea
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