Search Results - "McKenzie, Marna B"

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy by Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.

“…Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their…”
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DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study by Trinh, Joanne, BSc, Gustavsson, Emil K, MSc, Vilariño-Güell, Carles, PhD, Bortnick, Stephanie, BSc, Latourelle, Jeanne, PhD, McKenzie, Marna B, BSc, Tu, Chelsea Szu, MSc, Nosova, Ekaterina, PhD, Khinda, Jaskaran, BSc, Milnerwood, Austen, PhD, Lesage, Suzanne, PhD, Brice, Alexis, MD, Tazir, Meriem, MD, Aasly, Jan O, MD, Parkkinen, Laura, PhD, Haytural, Hazal, MSc, Foroud, Tatiana, PhD, Myers, Richard H, PhD, Sassi, Samia Ben, MD, Hentati, Emna, MD, Nabli, Fatma, MD, Farhat, Emna, MD, Amouri, Rim, PhD, Hentati, Fayçal, MD, Farrer, Matthew J, Dr

“…Summary Background Leucine-rich repeat kinase 2 ( LRRK2 ) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white…”
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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy by Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J

“…Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the…”
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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy by Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Adam, Shelin, du Souich, Christèle, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Boelman, Cyrus, Bolbocean, Corneliu, Buerki, Sarah E., Candido, Tara, Eydoux, Patrice, Evans, Daniel M., Gibson, William, Horvath, Gabriella, Huh, Linda, Sinclair, Graham, Tarling, Tamsin, Toyota, Eric B., Townsend, Katelin N., Van Allen, Margot I., Vercauteren, Suzanne, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas

“…KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome…”
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Breakthrough spikes in rapid eye movement sleep from the epilepsy monitoring unit are associated with peak seizure frequency by McKenzie, Marna B, Jones, Michelle-Lee, O’Carroll, Aoife, Serletis, Demitre, Shafer, Leigh Anne, Ng, Marcus C

“…Abstract Study Objectives Rapid eye movement sleep (REM) usually suppresses interictal epileptiform discharges (IED) and seizures. However, breakthrough IEDs…”
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An Infant With Epilepsy and Recurrent Hemiplegia Due to Compound Heterozygous Variants in ATP1A2 by Wilbur, Colin, Buerki, Sarah E, Guella, Ilaria, Toyota, Eric, Evans, Daniel M, Mckenzie, Marna B, Datta, Anita, Michoulas, Aspasia, Adam, Shelin, Van Allen, Margot, Nelson, Tanya N, Farrer, Matthew J, Connolly, Mary B, Demos, Michelle

“…Abstract Background Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide…”
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De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy by Guella, Ilaria, Huh, Linda, McKenzie, Marna B, Toyota, Eric B, Bebin, E Martina, Thompson, Michelle L, Cooper, Gregory M, Evans, Daniel M, Buerki, Sarah E, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Connolly, Mary B, Farrer, Matthew J, Demos, Michelle

“…We describe 2 additional patients with early-onset epilepsy with a de novo mutation. Whole-exome sequencing was performed in 2 unrelated patients with…”
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Neurobehavioral characterization of adult-onset Alexander disease: A family study by Lichtenstein, Maya L, Dwosh, Emily, Roy Chowdhury, Anupama, Farrer, Matthew J, McKenzie, Marna B, Guella, Ilaria, Evans, Daniel M, Nygaard, Haakon B, Shewchuk, Jason R, Hayden, Sherri, Barton, Jason J S, Feldman, Howard H

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Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy by Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Naidu, Sakkubai, Desai, Sonal, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Guella, Ilaria, McKenzie, Marna B., Farrer, Matthew J., Datta, Anita, Connolly, Mary B., Demos, Michelle, Mojard Kalkhoran, Somayeh, Poburko, Damon, Friedman, Jan M., Claydon, Thomas

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Neurobehavioral characterization of adult-onset Alexander disease: A family study by Lichtenstein, Maya L, Dwosh, Emily, Roy Chowdhury, Anupama, Farrer, Matthew J, McKenzie, Marna B, Guella, Ilaria, Evans, Daniel M, Nygaard, Haakon B, Shewchuk, Jason R, Hayden, Sherri, Barton, Jason J S, Feldman, Howard H

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