Publications:

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Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences

Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW

Publication Date: 2023-03-08

Variant appearance in text: SCN1A: 4933C>T; R1645*

PubMed Link: 36945587

Variant Present in the following documents:

• media-1.xlsx, sheet 14

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

Hgg Advances

French, Courtney E CE; Dolling, Helen H; Mégy, Karyn K; Sanchis-Juan, Alba A; Kumar, Ajay A; Delon, Isabelle I; Wakeling, Matthew M; Mallin, Lucy L; Agrawal, Shruti S; Austin, Topun T; Walston, Florence F; Park, Soo-Mi SM; Parker, Alasdair A; Piyasena, Chinthika C; Bradbury, Kimberley K; , ; Ellard, Sian S; Rowitch, David H DH; Raymond, F Lucy FL

Publication Date: 2022-07-14

Variant appearance in text: SCN1A: 4933C>T; Arg1645Ter

PubMed Link: 35586607

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: SCN1A: R1645X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

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Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.

Neuroscience And Biobehavioral Reviews

Sabitha, K R KR; Shetty, Ashok K AK; Upadhya, Dinesh D

Publication Date: 2021-02

Variant appearance in text: Nav1.1: 4933C>T

PubMed Link: 33370574

Variant Present in the following documents:

• Main text

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Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.

Journal Of Neurochemistry

Turner, Thomas J TJ; Zourray, Clara C; Schorge, Stephanie S; Lignani, Gabriele G

Publication Date: 2021-04

Variant appearance in text: SCN1A: R1645X

PubMed Link: 32880951

Variant Present in the following documents:

• Main text

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Stem cells: A path towards improved epilepsy therapies.

Neuropharmacology

Lybrand, Zane R ZR; Goswami, Sonal S; Hsieh, Jenny J

Publication Date: 2020-05-15

Variant appearance in text: SCN1A: 4933C>T

PubMed Link: 31539537

Variant Present in the following documents:

• Main text

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Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.

Journal Of Clinical Neurology (Seoul, Korea)

Cho, Min Jung MJ; Kwon, Soon Sung SS; Ko, Ara A; Lee, Seung Tae ST; Lee, Young Mock YM; Kim, Heung Dong HD; Chung, Hee Jung HJ; Kim, Se Hee SH; Lee, Joon Soo JS; Kim, Dae Sung DS; Kang, Hoon Chul HC

Publication Date: 2018-01

Variant appearance in text: SCN1A: 4933C>T; R1645X

PubMed Link: 29141279

Variant Present in the following documents:

• Main text
• jcn-14-22.pdf

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Model systems for studying cellular mechanisms of SCN1A-related epilepsy.

Journal Of Neurophysiology

Schutte, Soleil S SS; Schutte, Ryan J RJ; Barragan, Eden V EV; O'Dowd, Diane K DK

Publication Date: 2016-04

Variant appearance in text: SCN1A: R1645X

PubMed Link: 26843603

Variant Present in the following documents:

• Main text

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Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Human Mutation

Xu, Xiaojing X; Yang, Xiaoxu X; Wu, Qixi Q; Liu, Aijie A; Yang, Xiaoling X; Ye, Adam Yongxin AY; Huang, August Yue AY; Li, Jiarui J; Wang, Meng M; Yu, Zhe Z; Wang, Sheng S; Zhang, Zhichao Z; Wu, Xiru X; Wei, Liping L; Zhang, Yuehua Y

Publication Date: 2015-09

Variant appearance in text: SCN1A: 4933C>T; R1645*

PubMed Link: 26096185

Variant Present in the following documents:

• Main text
• HUMU-36-861.pdf

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A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey.

Neural Regeneration Research

Arslan, Mutluay M; Yiş, Uluç U; Cağlayan, Hande H; Akin, Rıdvan R

Publication Date: 2013-04-05

Variant appearance in text: SCN1A: 4933C>T

PubMed Link: 25206388

Variant Present in the following documents:

• NRR-8-955.pdf

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Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.

Journal Of Neurogenetics

Srikanth, Priya P; Young-Pearse, Tracy L TL

Publication Date: 2014

Variant appearance in text: SCN1A: R1645X

PubMed Link: 24628482

Variant Present in the following documents:

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A human Dravet syndrome model from patient induced pluripotent stem cells.

Molecular Brain

Higurashi, Norimichi N; Uchida, Taku T; Lossin, Christoph C; Misumi, Yoshio Y; Okada, Yohei Y; Akamatsu, Wado W; Imaizumi, Yoichi Y; Zhang, Bo B; Nabeshima, Kazuki K; Mori, Masayuki X MX; Katsurabayashi, Shutaro S; Shirasaka, Yukiyoshi Y; Okano, Hideyuki H; Hirose, Shinichi S

Publication Date: 2013-05-02

Variant appearance in text: SCN1A: 4933C>T; R1645*

PubMed Link: 23639079

Variant Present in the following documents:

• Main text
• 1756-6606-6-19.pdf

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