SCN1A基因突變新發位點導致Dravet綜合征一例_Journal of Epilepsy

Authors：

鄭明雪 ,  李秋波

濟寧醫學院附屬醫院兒科（濟寧 272029）;

Corresponding?author：

李秋波, Email: lqb0072@126.com

Keywords：

DOI：

10.7507/2096-0247.202111012

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Citation： 鄭明雪, 李秋波. SCN1A基因突變新發位點導致Dravet綜合征一例. Journal of Epilepsy, 2022, 8(2): 166-169. doi: 10.7507/2096-0247.202111012 Copy

1.	Wu YW, Sullivan J, McDaniel SS, et al. Incidence of Dravet syndrome in a US population. Pediatrics, 2015, 136(5): e1310-e1315.
2.	Anwar A, Saleem S, Patel UK, et al. Dravet syndrome: an overview. Cureus, 2019, 11(6): e5006.
3.	Lopez-Santiago L, Isom LL. Dravet syndrome: a developmental and epileptic encephalopathy. Epilepsy Curr, 2019, 19(1): 51-53.
4.	Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res, 2006, 70(Suppl 1): S223-S230.
5.	Ricobaraza A, Mora-Jimenez L, Puerta E, et al. Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation. Sci Rep, 2019, 9(1): 14172.
6.	Gataullina S, Dulac O. From genotype to phenotype in Dravet disease. Seizure, 2017, 44: 58-64.
7.	Scheffer I E, Nabbout R. SCN1A-related phenotypes: epilepsy and beyond. Epilepsia, 2019, 60(Suppl 3): S17-S24.
8.	Steel D, Symonds J D, Zuberi S M, et al. Dravet syndrome and its mimics: Beyond SCN1A. Epilepsia, 2017, 58(11): 1807-1816.
9.	Beck VC, Hull JM, Isom LL. Beyond Dravet syndrome: characterization of a novel, more severe SCN1A-linked epileptic encephalopathy. Epilepsy Curr, 2019, 19(4): 266-268.
10.	Bahceci D, Anderson LL, Occelli HBC, et al. Adolescent behavioral abnormalities in a SCN1A(+/-) mouse model of Dravet syndrome. Epilepsy Behav, 2020, 103(Pt A): 106842.
11.	Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet, 2001, 68(6): 1327-1332.
12.	Marini C, Scheffer IE, Nabbout R, et al. The genetics of Dravet syndrome. Epilepsia, 2011, 52(Suppl 2): 24-29.
13.	Zuberi SM, Brunklaus A, Birch R, et al. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology, 2011, 76(7): 594-600.
14.	Colasante G, Lignani G, Brusco S, et al. Cas9-based SCN1A gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice. Mol Ther, 2020, 28(1): 235-253.
15.	Connolly MB. Dravet syndrome: diagnosis and long-term course. Can J Neurol Sci, 2016, 43(Suppl 3): S3-S8.
16.	Mantegazza M, Broccoli V. SCN1A/Na(V) 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models. Epilepsia, 2019, 60(Suppl 3): S25-S38.
17.	Ruffolo G, Cifelli P, Roseti C, et al. A novel GABAergic dysfunction in human Dravet syndrome. Epilepsia, 2018, 59(11): 2106-2117.
18.	Jiang T, Shen Y, Chen H, et al. Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. Medicine (Baltimore), 2018, 97(50): e13565.
19.	Cetica V, Chiari S, Mei D, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology, 2017, 88(11): 1037-1044.

1. Wu YW, Sullivan J, McDaniel SS, et al. Incidence of Dravet syndrome in a US population. Pediatrics, 2015, 136(5): e1310-e1315.
2. Anwar A, Saleem S, Patel UK, et al. Dravet syndrome: an overview. Cureus, 2019, 11(6): e5006.
3. Lopez-Santiago L, Isom LL. Dravet syndrome: a developmental and epileptic encephalopathy. Epilepsy Curr, 2019, 19(1): 51-53.
4. Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res, 2006, 70(Suppl 1): S223-S230.
5. Ricobaraza A, Mora-Jimenez L, Puerta E, et al. Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation. Sci Rep, 2019, 9(1): 14172.
6. Gataullina S, Dulac O. From genotype to phenotype in Dravet disease. Seizure, 2017, 44: 58-64.
7. Scheffer I E, Nabbout R. SCN1A-related phenotypes: epilepsy and beyond. Epilepsia, 2019, 60(Suppl 3): S17-S24.
8. Steel D, Symonds J D, Zuberi S M, et al. Dravet syndrome and its mimics: Beyond SCN1A. Epilepsia, 2017, 58(11): 1807-1816.
9. Beck VC, Hull JM, Isom LL. Beyond Dravet syndrome: characterization of a novel, more severe SCN1A-linked epileptic encephalopathy. Epilepsy Curr, 2019, 19(4): 266-268.
10. Bahceci D, Anderson LL, Occelli HBC, et al. Adolescent behavioral abnormalities in a SCN1A(+/-) mouse model of Dravet syndrome. Epilepsy Behav, 2020, 103(Pt A): 106842.
11. Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet, 2001, 68(6): 1327-1332.
12. Marini C, Scheffer IE, Nabbout R, et al. The genetics of Dravet syndrome. Epilepsia, 2011, 52(Suppl 2): 24-29.
13. Zuberi SM, Brunklaus A, Birch R, et al. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology, 2011, 76(7): 594-600.
14. Colasante G, Lignani G, Brusco S, et al. Cas9-based SCN1A gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice. Mol Ther, 2020, 28(1): 235-253.
15. Connolly MB. Dravet syndrome: diagnosis and long-term course. Can J Neurol Sci, 2016, 43(Suppl 3): S3-S8.
16. Mantegazza M, Broccoli V. SCN1A/Na(V) 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models. Epilepsia, 2019, 60(Suppl 3): S25-S38.
17. Ruffolo G, Cifelli P, Roseti C, et al. A novel GABAergic dysfunction in human Dravet syndrome. Epilepsia, 2018, 59(11): 2106-2117.
18. Jiang T, Shen Y, Chen H, et al. Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. Medicine (Baltimore), 2018, 97(50): e13565.
19. Cetica V, Chiari S, Mei D, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology, 2017, 88(11): 1037-1044.

Journal of Epilepsy

SCN1A基因突變新發位點導致Dravet綜合征一例

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content