Genetic influences on epilepsy outcomes: A whole‐exome sequencing and health care records data linkage study by Fonferko‐Shadrach, Beata, Lacey, Arron S., Strafford, Huw, Jones, Carys, Baker, Mark, Powell, Robert, Akbari, Ashley, Lyons, Ronan A., Ford, David, Thompson, Simon, Jones, Kerina H., Chung, Seo‐Kyung, Pickrell, William O., Rees, Mark I.

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A by CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy by Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees, Mark I., Dobyns, William B.

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The role of copy number variants in the genetic architecture of common familial epilepsies by Almanza Fuerte, Edith P., Nguyen, John, Mehaffey, Michelle, Sulovari, Arvis, Wang, Tianyun, Galey, Miranda, Miller, Danny E., Eichler, Evan E., Mefford, Heather C., Abou‐Khalil, Bassel, Afawi, Zaid Afawi, Allen, Andrew S., Amrom, Dina, Andermann, Eva, Bautista, Jocelyn F., Bellows, Susannah T., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alexis, Burgess, Rosemary, Cascino, Gregory D., Chung, Seo‐Kyung, Consalvo, Damian, Cossette, Patrick, Crompton, Douglas E., Crumrine, Patricia, Curtis, Sarah W., Delanty, Norman, Devinsky, Orrin, Dlugos, Dennis, Ellis, Colin A., Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., Freyer, Catharine, Friedman, Dan, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Harris, Rebekah V., Haut, Sheryl, Heinzen, Erin L., Helmers, Sandra, Henry, Olivia J., Joshi, Sucheta, Kirsch, Heidi E., Kivity, Sara, Knowlton, Robert C., Kossoff, Eric, Kuzniecky, Ruben, Loeb, Rebecca, Lowenstein, Daniel H., Marson, Anthony G., McCormack, Mark, McGuire, Shannon M., McKenna, Kevin, Motika, Paul V., Mullen, Saul A., Novotny, Edward J., O’Brien, Terence J., Oliver, Karen L., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack M., Park, Kristen L., Paterson, Sarah J., Petrovski, Slave, Pickrell, William O., Poduri, Annapurna, Rees, Mark I., Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renee A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K., Sirven, Joseph, Smith, Michael C., Smith, Philip E. M., Sperling, Michael R., Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith, Widdess‐Walsh, Peter, Winawer, Melodie R.

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Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients by Masri, Amira, Chung, Seo-Kyung, Rees, Mark I

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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells by Nash, Benjamin M., Loi, To Ha, Fernando, Milan, Sabri, Amin, Robinson, James, Cheng, Anson, Eamegdool, Steven S., Farnsworth, Elizabeth, Bennetts, Bruce, Grigg, John R., Chung, Seo-Kyung, Gonzalez-Cordero, Anai, Jamieson, Robyn V.

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Novel missense mutations in the glycine receptor β subunit gene ( GLRB ) in startle disease by James, Victoria M, Bode, Anna, Chung, Seo-Kyung, Gill, Jennifer L, Nielsen, Maartje, Cowan, Frances M, Vujic, Mihailo, Thomas, Rhys H, Rees, Mark I, Harvey, Kirsten, Keramidas, Angelo, Topf, Maya, Ginjaar, Ieke, Lynch, Joseph W, Harvey, Robert J

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GLRB is the third major gene of effect in hyperekplexia by Chung, Seo-Kyung, Bode, Anna, Cushion, Thomas D, Thomas, Rhys H, Hunt, Charlotte, Wood, Sian-Elin, Pickrell, William O, Drew, Cheney J G, Yamashita, Sumimasa, Shiang, Rita, Leiz, Steffen, Longardt, Ann-Carolyn, Longhardt, Ann-Carolyn, Raile, Vera, Weschke, Bernhard, Puri, Ratna D, Verma, Ishwar C, Harvey, Robert J, Ratnasinghe, Didi D, Parker, Michael, Rittey, Chris, Masri, Amira, Lingappa, Lokesh, Howell, Owain W, Vanbellinghen, Jean-François, Mullins, Jonathan G, Lynch, Joseph W, Rees, Mark I

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Brugada Syndrome Masquerading as Febrile Seizures by Skinner, Jonathan Robert, Chung, Seo-Kyung, Nel, Carey-Anne, Shelling, Andrew Neil, Crawford, Jackie Robyn, McKenzie, Neil, Pinnock, Ralph, French, John Kerswell, Rees, Mark Ian

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Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene by Gill, Jennifer L, Capper, Deborah, Vanbellinghen, Jean-François, Chung, Seo-Kyung, Higgins, Robert J, Rees, Mark I, Shelton, G. Diane, Harvey, Robert J

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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy by Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy by Piard, Juliette, Umanah, George K Essien, Harms, Frederike L, Abalde-Atristain, Leire, Amram, Daniel, Chang, Melissa, Chen, Rong, Alawi, Malik, Salpietro, Vincenzo, Rees, Mark I, Chung, Seo-Kyung, Houlden, Henry, Verloes, Alain, Dawson, Ted M, Dawson, Valina L, Van Maldergem, Lionel, Kutsche, Kerstin

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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes by Oegema, Renske, Cushion, Thomas D, Phelps, Ian G, Chung, Seo-Kyung, Dempsey, Jennifer C, Collins, Sarah, Mullins, Jonathan G L, Dudding, Tracy, Gill, Harinder, Green, Andrew J, Dobyns, William B, Ishak, Gisele E, Rees, Mark I, Doherty, Dan

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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy by Fry, Andrew E., Marra, Christopher, Derrick, Anna V., Pickrell, William O., Higgins, Adam T., te Water Naude, Johann, McClatchey, Martin A., Davies, Sally J., Metcalfe, Kay A., Tan, Hui Jeen, Mohanraj, Rajiv, Avula, Shivaram, Williams, Denise, Brady, Lauren I., Mesterman, Ronit, Tarnopolsky, Mark A., Zhang, Yuehua, Yang, Ying, Wang, Xiaodong, Rees, Mark I., Goldfarb, Mitchell, Chung, Seo-Kyung

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Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus by Sagie, Shira, Lerman-Sagie, Tally, Maljevic, Snezana, Yosovich, Keren, Detert, Katja, Chung, Seo-Kyung, Rees, Mark I, Lerche, Holger, Lev, Dorit

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Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1 by Hmami, Fouzia, Wood, Sian-Elin, Chaouki, Sana, Oulmaati, Abdellah, Hida, Mustapha, Rees, Mark I., Chung, Seo-Kyung, Bouharrou, Abdelhak

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The glycinergic system in human startle disease: a genetic screening approach by Davies, Jeff S, Chung, Seo-Kyung, Thomas, Rhys H, Robinson, Angela, Hammond, Carrie L, Mullins, Jonathan G L, Carta, Eloisa, Pearce, Brian R, Harvey, Kirsten, Harvey, Robert J, Rees, Mark I

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Symptoms and Signs Associated with Syncope in Young People with Primary Cardiac Arrhythmias by MacCormick, Judith M., MBChB, Crawford, Jackie R., NZCS, Chung, Seo-Kyung, PhD, Shelling, Andrew N., PhD, Evans, Cary-Anne, MSc (Med), Rees, Mark I., PhD, Smith, Warren M., MBChB, Crozier, Ian G., MBChB, McAlister, Hugh, Skinner, Jon R., MD

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Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia by Chung, Seo-Kyung, Vanbellinghen, Jean-François, Mullins, Jonathan G L, Robinson, Angela, Hantke, Janina, Hammond, Carrie L, Gilbert, Daniel F, Freilinger, Michael, Ryan, Monique, Kruer, Michael C, Masri, Amira, Gurses, Candan, Ferrie, Colin, Harvey, Kirsten, Shiang, Rita, Christodoulou, John, Andermann, Frederick, Andermann, Eva, Thomas, Rhys H, Harvey, Robert J, Lynch, Joseph W, Rees, Mark I

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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation by Piard, Juliette, Essien Umanah, George K, Harms, Frederike L, Abalde-Atristain, Leire, Amram, Daniel, Chang, Melissa, Chen, Rong, Alawi, Malik, Salpietro, Vincenzo, Rees, Mark I, Chung, Seo-Kyung, Houlden, Henry, Verloes, Alain, Dawson, Ted M, Dawson, Valina L, Van Maldergem, Lionel, Kutsche, Kerstin

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