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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
- 202 - 206 (5page)
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초록· 키워드
오류제보하기
KCNQ2 mutations induce a neonatal-onset epileptic encephalopathy of widely varying severity, ranging from benign familial neonatal epilepsy to severe refractory epileptic encephalopathy. Refractory seizures with KCNQ2 mutations have a positive response to sodium-channel blockers. Recently, a distinctive ictal pattern has been reported during amplitude-integrated electroencephalographic (aEEG) monitoring in infants with KCNQ2 encephalopathy. Herein, we describe a case of KCNQ2 encephalopathy with this distinctive ictal aEEG pattern, which was confirmed using conventional electroencephalography (EEG). A 3-day-old female infant presented with neonatal seizures accompanied by cyanosis and desaturation. Her seizure semiology was tonic and focal clonic. Her ictal aEEG demonstrated a sudden rise in amplitude followed by a suppressed background pattern. This pattern was also confirmed on conventional EEG. Her seizures were refractory despite the administration of multiple conventional antiepileptic drugs. Finally, c.794C>T; p. (Ala265Val) mutation was observed in the KCNQ2 gene on genetic testing, and she was diagnosed with KCNQ2 encephalopathy. Identifying this distinctive ictal pattern on aEEG monitoring facilitates the early detection of KCNQ2 encephalopathy and timely targeted treatment in patients with refractory seizures.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Scheffer IE / 2017 / ILAE classification of the epilepsies : position paper of the ILAE Commission for Classification and Terminology / Epilepsia 58:512~521
Reif PS / 2017 / Precision medicine in genetic epilepsies : break of dawn / Expert Rev Neurother 17:381~392
Na JH / 2020 / Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy / Brain Dev 42:438~448
Milh M / 2013 / Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 / Orphanet J Rare Dis 8:80
Biervert C / 1998 / A potassium channel mutation in neonatal human epilepsy / Science 279:403~406
Reif PS / 2017 / Precision medicine in genetic epilepsies : break of dawn / Expert Rev Neurother 17:381~392
Na JH / 2020 / Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy / Brain Dev 42:438~448
Milh M / 2013 / Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 / Orphanet J Rare Dis 8:80
Biervert C / 1998 / A potassium channel mutation in neonatal human epilepsy / Science 279:403~406
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