De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
Veeramah, Krishna R., O'Brien, Janelle E., Meisler, Miriam H., Cheng, Xiaoyang, Dib-Hajj, Sulayman D., Waxman, Stephen G., Talwar, Dinesh, Girirajan, Santhosh, Eichler, Evan E., Restifo, Linda L., Erickson, Robert P., Hammer, Michael F.
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Journal Article
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism
Liu, Yu, Lopez-Santiago, Luis F., Yuan, Yukun, Jones, Julie M., Zhang, Helen, O'Malley, Heather A., Patino, Gustavo A., O'Brien, Janelle E., Rusconi, Raffaella, Gupta, Ajay, Thompson, Robert C., Natowicz, Marvin R., Meisler, Miriam H., Isom, Lori L., Parent, Jack M.
Published in Annals of neurology (01.07.2013)
Published in Annals of neurology (01.07.2013)
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Journal Article
A novel de novo mutation of SCN8A (Nav 1.6) with enhanced channel activation in a child with epileptic encephalopathy
Estacion, Mark, O'Brien, Janelle E, Conravey, Allison, Hammer, Michael F, Waxman, Stephen G, Dib-Hajj, Sulayman D, Meisler, Miriam H
Published in Neurobiology of disease (01.09.2014)
Published in Neurobiology of disease (01.09.2014)
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Journal Article
The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function
Gehman, Lauren T, Meera, Pratap, Stoilov, Peter, Shiue, Lily, O'Brien, Janelle E, Meisler, Miriam H, Ares, Jr, Manuel, Otis, Thomas S, Black, Douglas L
Published in Genes & development (01.03.2012)
Published in Genes & development (01.03.2012)
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Journal Article
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
de Kovel, Carolien G.F, Meisler, Miriam H, Brilstra, Eva H, van Berkestijn, Frederique M.C, Slot, Ruben van ‘t, van Lieshout, Stef, Nijman, Isaac J, O’Brien, Janelle E, Hammer, Michael F, Estacion, Mark, Waxman, Stephen G, Dib-Hajj, Sulayman D, Koeleman, Bobby P.C
Published in Epilepsy research (01.11.2014)
Published in Epilepsy research (01.11.2014)
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Journal Article
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
Meisler, Miriam H., O’Brien, Janelle E., Sharkey, Lisa M.
Published in The Journal of physiology (01.06.2010)
Published in The Journal of physiology (01.06.2010)
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Journal Article
Genome-wide patterns of gene flow across a house mouse hybrid zone
Teeter, Katherine C, Payseur, Bret A, Harris, Leslie W, Bakewell, Margaret A, Thibodeau, Lisa M, O'Brien, Janelle E, Krenz, James G, Sans-Fuentes, Maria A, Nachman, Michael W, Tucker, Priscilla K
Published in Genome Research (01.01.2008)
Published in Genome Research (01.01.2008)
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Journal Article
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
Meisler, Miriam H, O'Brien, Janelle E, Sharkey, Lisa M
Published in The Journal of physiology (01.06.2010)
Published in The Journal of physiology (01.06.2010)
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Journal Article
Interaction of Voltage-gated Sodium Channel Nav1.6 (SCN8A) with Microtubule-associated Protein Map1b
O'Brien, Janelle E., Sharkey, Lisa M., Vallianatos, Christina N., Han, Chongyang, Blossom, Julie C., Yu, Ting, Waxman, Stephen G., Dib-Hajj, Sulayman D., Meisler, Miriam H.
Published in The Journal of biological chemistry (25.05.2012)
Published in The Journal of biological chemistry (25.05.2012)
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Journal Article
De Novo Pathogenic SCNBA Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
VEERAMAH, Krishna R, O'BRIEN, Janelle E, ERICKSON, Robert P, HAMMER, Michael F, MEISLER, Miriam H, XIAOYANG CHENG, DIB-HAJJ, Sulayman D, WAXMAN, Stephen G, TALWAR, Dinesh, GIRIRAJAN, Santhosh, EICHLER, Evan E, RESTIFO, Linda L
Published in American journal of human genetics (2012)
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Published in American journal of human genetics (2012)
Journal Article
Gene Interactions and Modifiers in Epilepsy
Meisler, Miriam H., O'Brien, Janelle E.
Published in Jasper's Basic Mechanisms of the Epilepsies (01.07.2012)
Published in Jasper's Basic Mechanisms of the Epilepsies (01.07.2012)
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