Clinical whole exome sequencing in child neurology practice von Srivastava, Siddharth, Cohen, Julie S., Vernon, Hilary, Barañano, Kristin, McClellan, Rebecca, Jamal, Leila, Naidu, SakkuBai, Fatemi, Ali

Volltext

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy von 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

Volltext

De novo KCNB1 mutations in epileptic encephalopathy von Torkamani, Ali, Bersell, Kevin, Jorge, Benjamin S., Bjork Jr, Robert L., Friedman, Jennifer R., Bloss, Cinnamon S., Cohen, Julie, Gupta, Siddharth, Naidu, Sakkubai, Vanoye, Carlos G., George Jr, Alfred L., Kearney, Jennifer A.

Volltext

Rett Syndrome and Epilepsy: An Update for Child Neurologists von Dolce, Alison, MD, Ben-Zeev, Bruria, MD, Naidu, Sakkubai, MD, Kossoff, Eric H., MD

Volltext

Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype von Crosson, Jane, Srivastava, Siddharth, Bibat, Genila M., Gupta, Siddharth, Kantipuly, Aditi, Smith‐Hicks, Constance, Myers, Scott M., Sanyal, Abanti, Yenokyan, Gayane, Brenner, Joel, Naidu, Sakkubai R.

Volltext

Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice? von Wong, Dean F., Blue, Mary E., Brašić, James R., Nandi, Ayon, Valentine, Heather, Stansfield, Kirstie H., Rousset, Olivier, Bibat, Genila, Yablonski, Mary E., Johnston, Michael V., Gjedde, Albert, Naidu, SakkuBai

Volltext

Loss-of-function variants in HIVEP2 are a cause of intellectual disability von Srivastava, Siddharth, Engels, Hartmut, Schanze, Ina, Cremer, Kirsten, Wieland, Thomas, Menzel, Moritz, Schubach, Max, Biskup, Saskia, Kreiß, Martina, Endele, Sabine, Strom, Tim M, Wieczorek, Dagmar, Zenker, Martin, Gupta, Siddharth, Cohen, Julie, Zink, Alexander M, Naidu, SakkuBai

Volltext

Heightened Delta Power during Slow-Wave-Sleep in Patients with Rett Syndrome Associated with Poor Sleep Efficiency von Ammanuel, Simon, Chan, Wesley C, Adler, Daniel A, Lakshamanan, Balaji M, Gupta, Siddharth S, Ewen, Joshua B, Johnston, Michael V, Marcus, Carole L, Naidu, Sakkubai, Kadam, Shilpa D

Volltext

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism von Kim, Hyung-Goo, Rosenfeld, Jill A, Scott, Daryl A, Bénédicte, Gerard, Labonne, Jonathan D, Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R, Layman, Lawrence C, Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee

Volltext

Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice von Johnston, Michael V, Ammanuel, Simon, O'Driscoll, Cliona, Wozniak, Amy, Naidu, Sakkubai, Kadam, Shilpa D

Volltext

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation von Jentarra, Garilyn M, Olfers, Shannon L, Rice, Stephen G, Srivastava, Nishit, Homanics, Gregg E, Blue, Mary, Naidu, Sakkubai, Narayanan, Vinodh

Volltext

Recent advances in understanding synaptic abnormalities in Rett syndrome [version 1; peer review: 2 approved] von Johnston, Michael V, Blue, Mary E, Naidu, Sakkubai

Volltext

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease von Li, Rong, Johnson, Anne B., Salomons, Gajja, Goldman, James E., Naidu, Sakkubai, Quinlan, Roy, Cree, Bruce, Ruyle, Stephanie Z., Banwell, Brenda, D'Hooghe, Marc, Siebert, Joseph R., Rolf, Cristin M., Cox, Helen, Reddy, Alyssa, Gutiérrez-Solana, Luis González, Collins, Amanda, Weller, Roy O., Messing, Albee, van der Knaap, Marjo S., Brenner, Michael

Volltext

Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants von Srivastava, Siddharth, Naidu, Sakkubai

Volltext

Functional outcomes in Rett syndrome von Pidcock, Frank S, Salorio, Cynthia, Bibat, Genila, Swain, Jennifer, Scheller, Jocelyn, Shore, Wendy, Naidu, SakkuBai

Volltext

GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder von Shieh, Christine, Jones, Natasha, Vanle Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P, Hane, Lee, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena Luis, Vernon, Hilary, Gripp, Karen W, Vergano Samantha A, Mahida Sonal, Naidu Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel Donald, Ranells, Judith, Smith, Rosemarie, Yusupov Roman, Mary-Louise, Freckmann, Ohden Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena Loren D M, Metcalfe, Kay, Splitt Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E, Cox, Helen, Venkateswaran Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini Usha, Mackay, Joel P, Pierson, Tyler Mark

Volltext

Temporal and Regional Alterations in NMDA Receptor Expression in Mecp2‐Null Mice von Blue, Mary E., Kaufmann, Walter E., Bressler, Joseph, Eyring, Charlotte, O'driscoll, Cliona, Naidu, Sakkubai, Johnston, Michael V.

Volltext

Brain metabolism in rett syndrome: Age, clinical, and genotype correlations von Horská, Alena, Farage, Luciano, Bibat, Genila, Nagae, Lídia M., Kaufmann, Walter E., Barker, Peter B., Naidu, Sakkubai

Volltext

Gene Expression Profiling in Postmortem Rett Syndrome Brain: Differential Gene Expression and Patient Classification von Colantuoni, Carlo, Jeon, Ok-Hee, Hyder, Karim, Chenchik, Alex, Khimani, Anis H., Narayanan, Vinodh, Hoffman, Eric P., Kaufmann, Walter E., Naidu, SakkuBai, Pevsner, Jonathan

Volltext

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation von Gardner, Jennifer F, Cushion, Thomas D, Niotakis, Georgios, Olson, Heather E, Grant, P Ellen, Scott, Richard H, Stoodley, Neil, Cohen, Julie S, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M, Mugalaasi, Hood, Mullins, Jonathan G L, Pilz, Daniela T, Fry, Andrew E

Volltext