Journal of Genetic Medicine

  • 제18권2호
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  • Pages.137-141
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  • 2021
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Effective ketogenic diet in CACNA1A-related 'epilepsy of infancy with migrating focal seizures'

  • Na, Hyejin (Department of Pediatrics, Chonnam National University Children's Hospital) ;
  • Lee, Sanghoon (Department of Pediatrics, Chonnam National University Children's Hospital) ;
  • Kim, Young Ok (Department of Pediatrics, Chonnam National University Children's Hospital)
  • 투고 : 2021.08.30
  • 심사 : 2021.09.13
  • 발행 : 2021.12.31
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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 detected 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.

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과제정보

This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Republic of Korea (grant no. NRF-2017R1D1A3A03000532)

참고문헌

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