204 related articles for article (PubMed ID: 36319147)
1. [Genetics and clinical phenotypes of epilepsy associated with chromosome 2q24.3 microdeletion].
Zhao N; Cheng MM; Yang Y; Niu XY; Chen Y; Yang XL; Zhang YH
Zhonghua Er Ke Za Zhi; 2022 Nov; 60(11):1140-1146. PubMed ID: 36319147
[No Abstract] [Full Text] [Related]
2. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
Lim BC; Hwang H; Kim H; Chae JH; Choi J; Kim KJ; Hwang YS; Yum MS; Ko TS
Epilepsy Res; 2015 Jan; 109():34-9. PubMed ID: 25524840
[TBL] [Abstract][Full Text] [Related]
3. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
Yang Y; Zhang YH; Chen JY; Ma JH; Sun D; Yang XL; Zhang J; Chen Y; Wu XR
Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):118-122. PubMed ID: 32102148
[No Abstract] [Full Text] [Related]
4. [Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].
Jing XW; Cheng MM; Niu XY; Yang Y; Yang XL; Yang ZX; Zhang YH
Zhonghua Er Ke Za Zhi; 2022 Apr; 60(4):345-349. PubMed ID: 35385942
[No Abstract] [Full Text] [Related]
5. [Analysis of clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion].
Wang HS; Deng J; Wang XH; Chen CH; Wang X; Zhuo XW; Dai LF; Li H; Fang F
Zhonghua Er Ke Za Zhi; 2022 Apr; 60(4):339-344. PubMed ID: 35385941
[No Abstract] [Full Text] [Related]
6. [Clinical features of epilepsies associated with GABRB2 variants].
Yang Y; Zhang YH; Chen JY; Zhang J; Yang XL; Chen Y; Yang ZX; Wu XR
Zhonghua Er Ke Za Zhi; 2019 Jul; 57(7):532-537. PubMed ID: 31269553
[No Abstract] [Full Text] [Related]
7. [Clinical characteristics of PCDH19-female limited epilepsy].
Chen Y; Yang XL; Liu AJ; Sun D; Yang Y; Zhang J; Chen JY; Yang ZX; Jiang YW; Wu XR; Zhang YH
Zhonghua Er Ke Za Zhi; 2019 Nov; 57(11):857-862. PubMed ID: 31665840
[No Abstract] [Full Text] [Related]
8. [Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy].
Zhang YH; Sun HH; Liu XY; Ma XW; Yang ZX; Xiong H; Qin J; Lin Q; Wu XR
Zhonghua Er Ke Za Zhi; 2008 Oct; 46(10):769-73. PubMed ID: 19099883
[TBL] [Abstract][Full Text] [Related]
9. [Phenotype study of SCN2A gene related epilepsy].
Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR
Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185
[No Abstract] [Full Text] [Related]
10. [Clinical phenotypes of TBC1D24 gene related epilepsy].
Zhang J; Zhang YH; Chen JY; Zhang LP; Zeng Q; Tian XJ; Yang ZX; Wu Y; Yang XL; Wu XR
Zhonghua Er Ke Za Zhi; 2018 Sep; 56(9):667-673. PubMed ID: 30180405
[No Abstract] [Full Text] [Related]
11. Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.
Celle ME; Cuoco C; Porta S; Gimelli G; Tassano E
Gene; 2013 Dec; 532(2):294-6. PubMed ID: 24080482
[TBL] [Abstract][Full Text] [Related]
12. Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications.
Yoshitomi S; Takahashi Y; Ishizuka M; Yamaguchi T; Watanabe A; Nasu H; Ueda Y; Ohtani H; Ikeda H; Imai K; Shigematsu H; Inoue Y; Tanahashi Y; Aiba K; Ohta H; Shimada S; Yamamoto T
Brain Dev; 2015 Oct; 37(9):874-9. PubMed ID: 25843248
[TBL] [Abstract][Full Text] [Related]
13. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
[No Abstract] [Full Text] [Related]
14. [Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].
Liu AJ; Zhang YH; Xu XJ; Yang XL; Yang ZX; Wu Y; Liu XY; Jiang YW; Wu XR
Zhonghua Er Ke Za Zhi; 2016 May; 54(5):327-31. PubMed ID: 27143072
[TBL] [Abstract][Full Text] [Related]
15. Genetics and clinical correlation of Dravet syndrome and its mimics - experience of a tertiary center in Taiwan.
Liu YH; Cheng YT; Tsai MH; Chou IJ; Hung PC; Hsieh MY; Wang YS; Chen YJ; Kuo CY; Lin JJ; Wang HS; Lin KL
Pediatr Neonatol; 2021 Sep; 62(5):550-558. PubMed ID: 34226156
[TBL] [Abstract][Full Text] [Related]
16. Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.
Li W; Schneider AL; Scheffer IE
Epilepsia; 2021 Sep; 62(9):2205-2217. PubMed ID: 34338318
[TBL] [Abstract][Full Text] [Related]
17. [Clinical and neuroimaging features of acute encephalopathy after status epilepticus in Dravet syndrome].
Tian XJ; Zhang YH; Liu AJ; Yang XL; Zeng Q; Yang ZX; Ye JT; Liu XY; Jiang YW; Wu XR
Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):277-282. PubMed ID: 28441824
[No Abstract] [Full Text] [Related]
18. The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome.
Whitney R; Nair A; McCready E; Keller AE; Adil IS; Aziz AS; Borys O; Siu K; Shah C; Meaney BF; Jones K; RamachandranNair R
Seizure; 2021 Nov; 92():221-229. PubMed ID: 34601452
[TBL] [Abstract][Full Text] [Related]
19. [Clinical features and gene mutations in epilepsy of infancy with migrating focal seizures].
Shang KW; Zhang YH; Yang XL; Liu AJ; Yang ZX; Liu XY; Jiang YW; Wu XR
Zhonghua Er Ke Za Zhi; 2016 Oct; 54(10):735-739. PubMed ID: 27784474
[No Abstract] [Full Text] [Related]
20. [Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].
Tian XJ; Wang XH; Ding CH; Fang F; Dai LF; Deng J; Wang HM
Zhonghua Er Ke Za Zhi; 2022 Mar; 60(3):232-236. PubMed ID: 35240744
[No Abstract] [Full Text] [Related]
[Next] [New Search]
