Detalhe da pesquisa
1.
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes.
J Med Genet
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508705
2.
Both epilepsy and anti-seizure medications affect bone metabolism in children with self-limited epilepsy with centrotemporal spikes.
Epilepsia
; 64(10): 2667-2678, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37522416
3.
Efficacy and safety of switching from brand-name to domestic generic levetiracetam in children with epilepsy. / å·¦ä¹æ西å¦çå½äº§ä»¿å¶è¯æ¿æ¢æ²»çå¿ç«¥ç«ç«ççæåå®å ¨æ§ç 究.
Zhongguo Dang Dai Er Ke Za Zhi
; 24(3): 285-289, 2022 Mar 15.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-35351259
4.
[Effect of Ilepcimide Combined Western Drugs on Serum Level of Neuron Specific Enolase in Treating Epilepsy Children Patients].
Zhongguo Zhong Xi Yi Jie He Za Zhi
; 36(8): 912-915, 2016 08.
Artigo
em Zh
| MEDLINE | ID: mdl-30640983
5.
[Clinical analysis of 15 pediatric patients with tuberous sclerosis complex complicated by cardiac rhabdomyomas].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(5): 477-81, 2015 May.
Artigo
em Zh
| MEDLINE | ID: mdl-26014699
6.
CABP4 mutation in mice shows alteration in protein expression level and neuron discharge frequency.
Transl Pediatr
; 13(5): 705-715, 2024 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38840676
7.
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Seizure
; 116: 119-125, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37903666
8.
MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
Seizure
; 116: 30-36, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36894399
9.
Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.
Seizure
; 116: 87-92, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38523034
10.
Corrigendum: ATP6V0C is associated with febrile seizures and epilepsy with febrile seizures plus.
Front Mol Neurosci
; 17: 1385915, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38495552
11.
[Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(6): 662-5, 2013 Dec.
Artigo
em Zh
| MEDLINE | ID: mdl-24327142
12.
Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.
Seizure
; 111: 172-177, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37657306
13.
DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation.
Front Mol Neurosci
; 16: 1290919, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38249294
14.
HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
Clin Transl Med
; 13(6): e1289, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37264743
15.
Functional characterization of a KCNAB3 genetic epilepsy with febrile seizures plus adult mouse model.
Transl Pediatr
; 11(10): 1615-1623, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36345448
16.
BCOR variants are associated with X-linked recessive partial epilepsy.
Epilepsy Res
; 187: 107036, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36279688
17.
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus.
Front Mol Neurosci
; 15: 889534, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35600075
18.
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.
Front Mol Neurosci
; 15: 825390, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35663266
19.
[Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(1): 14-8, 2011 Feb.
Artigo
em Zh
| MEDLINE | ID: mdl-21287502
20.
Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders.
Int J Gen Med
; 14: 1275-1282, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880059