학술논문
Effective ketogenic diet in CACNA1A-related ‘epilepsy of infancy with migrating focal seizures’
이용수 12
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Hyejin Na Sanghoon Lee Young Ok Kim
- 간행물 정보
- 『대한의학유전학회지』제18권 제2호, 137~141쪽, 전체 5쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2021.12.31
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국문 초록
영문 초록
Genetic causes of developmental and epileptic encephalopathy (DEE) have been rapidly uncovered from mid-2010s. The mutations of gene enconding calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A) are recently de-tected in DEE, which gene is already known well in familial hemiplegic migrine type 1 or episodic ataxia type 2. Ketogenic diet therapy (KDT) is effective in some DEE, which data is short in CACNA1A encephalopathy. A 3-month-old male with global developmental delay and multidrug-resistant focal seizures was diagnosed as epilepsy of infancy with migrating focal seizures (EIMFS). Brain magnetic resonance imaging and metabolic screening were all normal. Whole exome sequencing revealed two variants of CACNA1A: c.899A>C, and c.2808del that is from his mother. His seizures disappeared within 3 days whenever on KDT, which recurred without it. To our knowledge, this rare case of EIMFS with novel mutations of CACNA1A, is the first report in CACNA1A encephalopathy becoming seizure-free on KDT.
목차
Introduction
Case
Discussion
Acknowledgements
Authors’ Contributions
References
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