Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan
Background: Dravet syndrome is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy and SCN1A gene mutations. In some cases, non-SCN1A gene mutations can present with a phenotype very similar to that of Dravet syndrome....
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Elsevier
2021-09-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957221001066 |
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| author | Yi-Hsuan Liu Yi-Ting Cheng Meng-Han Tsai I-Jun Chou Po-Cheng Hung Meng-Ying Hsieh Yi-Shan Wang Yun-Ju Chen Cheng-Yen Kuo Jainn-Jim Lin Huei-Shyong Wang Kuang-Lin Lin |
| author_facet | Yi-Hsuan Liu Yi-Ting Cheng Meng-Han Tsai I-Jun Chou Po-Cheng Hung Meng-Ying Hsieh Yi-Shan Wang Yun-Ju Chen Cheng-Yen Kuo Jainn-Jim Lin Huei-Shyong Wang Kuang-Lin Lin |
| author_sort | Yi-Hsuan Liu |
| collection | DOAJ |
| description | Background: Dravet syndrome is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy and SCN1A gene mutations. In some cases, non-SCN1A gene mutations can present with a phenotype very similar to that of Dravet syndrome. The aim of this study was to compare phenotypes of patients with SCN1A and non-SCN1A gene mutation-related Dravet syndrome. Methods: Thirty-six patients with Dravet syndrome-like phenotypes were followed from July 2017 to December 2019. We retrospectively analyzed their clinical profiles and genetic surveys. Results: Of the 36 enrolled patients, 15 (41.7%) had SCN1A mutations, one (2.8%) had an SCN8A mutation, one (2.8%) had an STX1B mutation, and five females (13.9%) had PCDH 19 mutations. The median age at first seizure onset was 7 months in those with SCN1A mutations, 1.3 years in those with PCDH19 mutations, and 10 months for the remaining patients. The majority of the patients with SCN1A mutations had status epilepticus (80% vs. 20%) and fever-sensitive seizures (76% vs. 31%) compared to those with PCDH19 mutations. The patients with SCN1A-related seizures had a higher rate of focal seizures as first seizure type than those without SCN1A mutations. Three of five (60%) patients with PCDH19 mutations had brain magnetic resonance imaging abnormalities. The three most commonly used antiseizure medications were sodium valproate, levetiracetam, and clobazam. Seven of the 15 patients with SCN1A mutations used stiripentol. The median time from seizure onset to genetic diagnosis was 6.6 years (range 4 months–22.3 years). Conclusion: The patients with SCN1A mutations in this study had high rates of fever-sensitive seizures, status epilepticus, seizure onset with focal seizure type, and relatively young age at seizure onset. The patients with PCDH19 mutations had a relatively high rate of abnormal brain magnetic resonance imaging findings. |
| format | Article |
| id | doaj-art-1eb110d18f1f41a6b1d239a47a68d1dd |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2021-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-1eb110d18f1f41a6b1d239a47a68d1dd2025-08-20T01:59:03ZengElsevierPediatrics and Neonatology1875-95722021-09-0162555055810.1016/j.pedneo.2021.05.022Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in TaiwanYi-Hsuan Liu0Yi-Ting Cheng1Meng-Han Tsai2I-Jun Chou3Po-Cheng Hung4Meng-Ying Hsieh5Yi-Shan Wang6Yun-Ju Chen7Cheng-Yen Kuo8Jainn-Jim Lin9Huei-Shyong Wang10Kuang-Lin Lin11Division of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, TaiwanCollege of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, Taiwan; Department of Pediatrics, New Taipei Municipal TuCheng Hospital, New Taipei, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, TaiwanCollege of Medicine, Chang Gung University, Taoyuan, Taiwan; Division of Pediatric Critical Care and Pediatric Neurocritical Care Center, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanDivision of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Corresponding author. Division of Pediatric Neurology, Chang Gung Children's Hospital, 5 Fu-Shin Street, Kwei-Shan, Taoyuan, 333, Taiwan.Background: Dravet syndrome is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy and SCN1A gene mutations. In some cases, non-SCN1A gene mutations can present with a phenotype very similar to that of Dravet syndrome. The aim of this study was to compare phenotypes of patients with SCN1A and non-SCN1A gene mutation-related Dravet syndrome. Methods: Thirty-six patients with Dravet syndrome-like phenotypes were followed from July 2017 to December 2019. We retrospectively analyzed their clinical profiles and genetic surveys. Results: Of the 36 enrolled patients, 15 (41.7%) had SCN1A mutations, one (2.8%) had an SCN8A mutation, one (2.8%) had an STX1B mutation, and five females (13.9%) had PCDH 19 mutations. The median age at first seizure onset was 7 months in those with SCN1A mutations, 1.3 years in those with PCDH19 mutations, and 10 months for the remaining patients. The majority of the patients with SCN1A mutations had status epilepticus (80% vs. 20%) and fever-sensitive seizures (76% vs. 31%) compared to those with PCDH19 mutations. The patients with SCN1A-related seizures had a higher rate of focal seizures as first seizure type than those without SCN1A mutations. Three of five (60%) patients with PCDH19 mutations had brain magnetic resonance imaging abnormalities. The three most commonly used antiseizure medications were sodium valproate, levetiracetam, and clobazam. Seven of the 15 patients with SCN1A mutations used stiripentol. The median time from seizure onset to genetic diagnosis was 6.6 years (range 4 months–22.3 years). Conclusion: The patients with SCN1A mutations in this study had high rates of fever-sensitive seizures, status epilepticus, seizure onset with focal seizure type, and relatively young age at seizure onset. The patients with PCDH19 mutations had a relatively high rate of abnormal brain magnetic resonance imaging findings.http://www.sciencedirect.com/science/article/pii/S1875957221001066dravet syndromeepileptic encephalopathyfever-sensitive seizuresSCN1Amutationstatus epilepticus |
| spellingShingle | Yi-Hsuan Liu Yi-Ting Cheng Meng-Han Tsai I-Jun Chou Po-Cheng Hung Meng-Ying Hsieh Yi-Shan Wang Yun-Ju Chen Cheng-Yen Kuo Jainn-Jim Lin Huei-Shyong Wang Kuang-Lin Lin Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan Pediatrics and Neonatology dravet syndrome epileptic encephalopathy fever-sensitive seizures SCN1Amutation status epilepticus |
| title | Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan |
| title_full | Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan |
| title_fullStr | Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan |
| title_full_unstemmed | Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan |
| title_short | Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan |
| title_sort | genetics and clinical correlation of dravet syndrome and its mimics experience of a tertiary center in taiwan |
| topic | dravet syndrome epileptic encephalopathy fever-sensitive seizures SCN1Amutation status epilepticus |
| url | http://www.sciencedirect.com/science/article/pii/S1875957221001066 |
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