지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 75 - 82 (8page)
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Background and Purpose The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet in patients with alternating hemiplegia of childhood (AHC). Methods The clinical information of 13 patients with ATP1A3 mutations was analyzed by performing retrospective chart reviews. Patients with the AHC phenotype who consented to ketogenic diet were included in the trial. Results Ten patients presented with the clinical phenotype of AHC, two patients presented with rapid-onset dystonia parkinsonism, and one patient presented with cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Two novel mutations of the AHC phenotype were identified: p.Ile363Thr and p.Asn743Ser. The clinical phenotypes of three mutations differed from those in previous reports: p.Arg597Pro, p.Thr769Pro, and p.Arg756Cys. One of the two patients who started a ketogenic diet experienced seizure provocation and so immediate stopped consuming the diet, while the other patient continued the ketogenic diet for 1 year, but this produced no clear benefit such as reduction of paroxysmal symptoms. Conclusions Our study is the first case series of ATP1A3-related disorders to be described in Korea and which further expands the understanding of its genotype-phenotype spectrum. A ketogenic diet showed no clear benefit for the patients with AHC.
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참고문헌 (27)
참고문헌 신청
Verret S / 1971 / Alternating hemiplegia in childhood : a report of eight patients with complicated migraine beginning in infancy / Pediatrics 47:675~680
Dobyns WB / 1993 / Rapid-onset dystonia-parkinsonism / Neurology 43:2596~2602
Nicolaides P / 1996 / Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss(CAPOS) : a new syndrome / J Med Genet 33:419~421
Heinzen EL / 2012 / De novo mutations in ATP1A3 cause alternating hemiplegia of childhood / Nat Genet 44:1030~1034
Dard R / 2015 / Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3mutation / Dev Med Child Neurol 57:1183~1186
Dobyns WB / 1993 / Rapid-onset dystonia-parkinsonism / Neurology 43:2596~2602
Nicolaides P / 1996 / Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss(CAPOS) : a new syndrome / J Med Genet 33:419~421
Heinzen EL / 2012 / De novo mutations in ATP1A3 cause alternating hemiplegia of childhood / Nat Genet 44:1030~1034
Dard R / 2015 / Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3mutation / Dev Med Child Neurol 57:1183~1186
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