Associated Papers
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.
Dinoi G et al.
Biomedicines, 2024
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
Xu XJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
[Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus].
Wang XH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
[Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus].
Sun H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus.
Sun H et al.
Human Genetics, 2008
Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus.
Sun H et al.
Human Genetics, 2008
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
Sun H et al.
Journal of Human Genetics, 2008
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