Publications:

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The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.

Cells

Zayat, Valery V; Kuczynska, Zuzanna Z; Liput, Michal M; Metin, Erkan E; Rzonca-Niewczas, Sylwia S; Smyk, Marta M; Mazurczak, Tomasz T; Goszczanska-Ciuchta, Alicja A; Leszczynski, Pawel P; Hoffman-Zacharska, Dorota D; Buzanska, Leonora L

Publication Date: 2023-01-16

Variant appearance in text: SCN1A: Ser1516*

PubMed Link: 36672274

Variant Present in the following documents:

• Main text
• cells-12-00339.pdf

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Does long-term phenytoin have a place in Dravet syndrome?

Annals Of Clinical And Translational Neurology

Zographos, George A GA; Russ-Hall, Sophie J SJ; Scheffer, Ingrid E IE

Publication Date: 2022-10-31

Variant appearance in text: SCN1A: 4547C>A; Ser1516X

PubMed Link: 36314457

Variant Present in the following documents:

• Main text
• ACN3-9-2036.pdf

View BVdb publication page

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The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).

Genomics

Holborn, Megan A MA; Ford, Graeme G; Turner, Sarah S; Mellet, Juanita J; van Rensburg, Jeanne J; Joubert, Fourie F; Pepper, Michael S MS

Publication Date: 2022-10-18

Variant appearance in text: SCN1A: 4547C>A

PubMed Link: 36270382

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc11.xlsx, sheet 1
• mmc6.xlsx, sheet 1

View BVdb publication page

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Long-term Efficacy of Perampanel in a Child with Dravet Syndrome.

Child Neurology Open

Turón-Viñas, Eulàlia E; Díaz-Gómez, Asunción A; Coca, Elisabet E; Dougherty, Lucía L; Ruiz, Carlos C; Boronat, Susana S

Publication Date: 2021

Variant appearance in text: SCN1A: 4547C>A; Ser1516*

PubMed Link: 34692895

Variant Present in the following documents:

• Main text
• 10.1177_2329048X211050711.pdf

View BVdb publication page

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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Plos One

Gall, Kimberly K; Izzo, Emanuela E; Seppälä, Eija H EH; Alakurtti, Kirsi K; Koskinen, Lotta L; Saarinen, Inka I; Singh, Akashdeep A; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2021

Variant appearance in text: SCN1A: 4547C>A

PubMed Link: 34469436

Variant Present in the following documents:

• Main text

View BVdb publication page

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High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Stosser, Mary Beth MB; Lindy, Amanda S AS; Butler, Elizabeth E; Retterer, Kyle K; Piccirillo-Stosser, Caitlin M CM; Richard, Gabriele G; McKnight, Dianalee A DA

Publication Date: 2018-04

Variant appearance in text: SCN1A: 4547C>A

PubMed Link: 28837158

Variant Present in the following documents:

• Main text
• gim2017114a.pdf

View BVdb publication page

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Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

Plos One

Zhang, Yujia Y; Kong, Weijing W; Gao, Yang Y; Liu, Xiaoyan X; Gao, Kai K; Xie, Han H; Wu, Ye Y; Zhang, Yuehua Y; Wang, Jingmin J; Gao, Feng F; Wu, Xiru X; Jiang, Yuwu Y

Publication Date: 2015

Variant appearance in text: SCN1A: 4547C>A; Ser1516Ter

PubMed Link: 26544041

Variant Present in the following documents:

• Main text
• pone.0141782.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: rs139300715

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: rs139300715

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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