Publications:

Dravet syndrome Presenting with Extrapyramidal Features, Ataxia and Basal Ganglia Hyperintensity on Brain Magnetic Resonance Imaging.

Annals Of Indian Academy Of Neurology

Iype, Mary M; Sreedharan, Mini M; Ahamed, Shahanaz M SM; Thomas, Elizabeth P EP; Eapen, Merin M; Sugunan, Sheeja S; Saradakutty, Geetha G; Bindusha, S S

Publication Date: 2021

Variant appearance in text: SCN1A: Met1856Thr

PubMed Link: 35002176

Variant Present in the following documents:

• AIAN-24-839.pdf

View BVdb publication page

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SCN1A: 5567T>C; Met1856Thr

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 5567T>C; Met1856Thr

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page