New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy von Melikishvili, Gia, Epitashvili, Nino, Tabatadze, Nazi, Chikvinidze, Gocha, Dulac, Olivier, Bienvenu, Thierry, Gataullina, Svetlana

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De Novo Large Deletion Leading to Fragile X Syndrome von Jiraanont, Poonnada, Manor, Esther, Tabatadze, Nazi, Zafarullah, Marwa, Mendoza, Guadalupe, Melikishvili, Gia, Tassone, Flora

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Effectiveness of add‐on acetazolamide in children with drug‐resistant CHD2‐related epilepsy and in a zebrafish CHD2 model von Melikishvili, Gia, Striano, Pasquale, Shojeinia, Elham, Gachechiladze, Tamar, Kurua, Ekaterine, Tabatadze, Nazhi, Melikishvili, Mariam, Koniashvili, Otar, Khachiashvili, Gvantsa, Epitashvili, Nino, Rimma, Gamirova, Belyaev, Oleg, Tomenko, Tatyana, Kharytonov, Volodymyr, Guliyeva, Ulviyya, Esguerra, Camila V., Crawford, Alexander D., Dulac, Olivier

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Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence von Melikishvili, Gia, Dulac, Olivier, Gataullina, Svetlana

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Extreme photosensitivity and self-induced seizures with dramatic response to add-on Lorazepam in patient with WDR45 encephalopathy von Kurua, Ekaterine, Gachechiladze, Tamar, Tabatadze, Nazhi, Melikishvili, Mariam, Melikishvili, Gia, Wilmshurst, Jo M

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SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient von Johnsen, Christin, Tabatadze, Nazi, Radenkovic, Silvia, Botzo, Grace, Kuschel, Bryce, Melikishvili, Gia, Morava, Eva

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Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet von Melikishvili, Gia, Bienvenu, Thierry, Tabatadze, Nazhi, Gachechiladze, Tamar, Kurua, Ekaterine, Gverdtsiteli, Sopio, Melikishvili, Mariam, Dulac, Olivier

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration von Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C., Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L., Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A., Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N., Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B., Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G.

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Risk of meningomyelocele mediated by the common 22q11.2 deletion von Vong, Keng Ioi, Lee, Sangmoon, Au, Kit Sing, Crowley, T Blaine, Capra, Valeria, Martino, Jeremiah, Haller, Meade, Araújo, Camila, Machado, Hélio R, George, Renee, Gerding, Bryn, James, Kiely N, Stanley, Valentina, Jiang, Nan, Alu, Kameron, Meave, Naomi, Nidhiry, Anna S, Jiwani, Fiza, Tang, Isaac, Nisal, Ashna, Jhamb, Ishani, Patel, Arzoo, Patel, Aakash, McEvoy-Venneri, Jennifer, Barrows, Chelsea, Shen, Celina, Ha, Yoo-Jin, Howarth, Robyn, Strain, Madison, Ashley-Koch, Allison Elizabeth, Azam, Matloob, Mumtaz, Sara, Bot, Gyang Markus, Finnell, Richard H, Kibar, Zoha, Marwan, Ahmed I, Melikishvili, Gia, Meltzer, Hal S, Mutchinick, Osvaldo M, Stevenson, David A, Mroczkowski, Henry J, Ostrander, Betsy, Schindewolf, Erica, Moldenhauer, Julie, Zackai, Elaine H, Emanuel, Beverly S, Garcia-Minaur, Sixto, Nowakowska, Beata A, Stevenson, Roger E, Zaki, Maha S, Northrup, Hope, McNamara, Hanna K, Aldinger, Kimberly A, Phelps, Ian G, Deng, Mei, Glass, Ian A, Morrow, Bernice, McDonald-McGinn, Donna M, Sanna-Cherchi, Simone, Lamb, Dolores J, Gleeson, Joseph G

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Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia von Kaiyrzhanov, Rauan, Zharkinbekova, Nazira, Guliyeva, Ulviyya, Ganieva, Manizha, Tavadyan, Zaruhi, Gachechiladze, Tamar, Salayev, Kamran, Guliyeva, Sughra, Isayan, Mariam, Kekenadze, Mariam, Sukhudyan, Biayna, Gevorgyan, Ani, Hakobyan, Artsruni, Ibadova, Rima, Tabatadze, Nazi, Kurua, Ekaterina, Shatirishvili, Teona, Yerkhojayeva, Nigara, Koneev, Kairgali, Zhumakhanov, Dauren, Mukushev, Askhat, Jaxybayeva, Altynshash, Nauryzbayeva, Alissa, Isrofilov, Maksudjon, Badalova, Saadat, Zeyniyeva, Naila, Hajiyeva, Ilaha, Alakbarov, Leyla, Zeynalova, Aynur, Chelban, Viorica, Vandrovcova, Jana, Turchetti, Valentina, Murphy, David, Efthymiou, Stephanie, Alavi, Shahryar, Mohammad, Rahema, Tkemaladze, Tinatin, Shashkin, Chingiz, Tatishvili, Nana Nino, Beridze, Maia, Khachatryan, Samson G., Melikishvili, Gia, Hardy, John, Maroofian, Reza, Houlden, Henry

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Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder von Aughey, Gabriel N, Cali, Elisa, Maroofian, Reza, Zaki, Maha S, Pagnamenta, Alistair T, Ali, Zafar, Abdulllah, Uzma, Rahman, Fatima, Menzies, Lara, Shafique, Anum, Suri, Mohnish, Roze, Emmanuel, Aguennouz, Mohammed, Ghizlane, Zouiri, Saadi, Saadia Maryam, Fatima, Ambrin, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Morel, Godelieve, Robin, Stephanie, McFarland, Robert, Altunoglu, Umut, Kraus, Verena, Shoukier, Moneef, Murphy, David, Flemming, Kristina, Yttervik, Hilde, Rhouda, Hajar, Lesca, Gaetan, Chatron, Nicolas, Rossi, Massimiliano, Murtaza, Bibi Nazia, Ur Rehman, Mujaddad, Lord, Jenny, Giacopuzzi, Edoardo, Hayat, Azam, Siraj, Muhammad, Badv, Reza Shervin, Seo, Go Hun, Beetz, Christian, Kayserili, Hülya, Krioulie, Yamna, Chung, Wendy K, Naz, Sadaf, Maqbool, Shazia, Chandler, Kate, Kershaw, Christopher, Wright, Thomas, Banka, Siddharth, Gleeson, Joseph G, Taylor, Jenny C, Efthymiou, Stephanie, Baig, Shahid Mahmood, Severino, Mariasavina, Jepson, James E C, Houlden, Henry

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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders von Langhammer, Franziska, Maroofian, Reza, Badar, Rueda, Gregor, Anne, Rochman, Michelle, Ratliff, Jeffrey B., Koopmans, Marije, Herget, Theresia, Hempel, Maja, Kortüm, Fanny, Heron, Delphine, Mignot, Cyril, Keren, Boris, Brooks, Susan, Botti, Christina, Ben-Zeev, Bruria, Argilli, Emanuela, Sherr, Elliot H., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Bakhtiari, Somayeh, Kruer, Michael C., Salih, Mustafa A., Kuechler, Alma, Muller, Eric A., Blocker, Karli, Kuismin, Outi, Park, Kristen L., Kochhar, Aaina, Brown, Kathleen, Ramanathan, Subhadra, Clark, Robin D., Elgizouli, Magdeldin, Melikishvili, Gia, Tabatadze, Nazhi, Stark, Zornitza, Mirzaa, Ghayda M., Ong, Jinfon, Grasshoff, Ute, Bevot, Andrea, von Wintzingerode, Lydia, Jamra, Rami A., Hennig, Yvonne, Goldenberg, Paula, Al Alam, Chadi, Charif, Majida, Boulouiz, Redouane, Bellaoui, Mohammed, Amrani, Rim, Al Mutairi, Fuad, Tamim, Abdullah M., Abdulwahab, Firdous, Alkuraya, Fowzan S., Khouj, Ebtissal M., Alvi, Javeria R., Sultan, Tipu, Hashemi, Narges, Karimiani, Ehsan G., Ashrafzadeh, Farah, Imannezhad, Shima, Efthymiou, Stephanie, Houlden, Henry, Sticht, Heinrich, Zweier, Christiane

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Epileptic spasms with terror during sleep in CDKL5 encephalopathy von Melikishvili, Gia, Sharkov, Artem, Gachechiladze, Tamar, Tomenko, Tatiana, Pivovarova, Alexandra, Volkov, Iosif, Andrade, Maria-Theresa, Castellanos, Abril, Bienvenu, Thierry, Dulac, Olivier, Roisman, Gabriel, Gataullina, Svetlana

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Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration von Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C., Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L., Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A., Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N., Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B., Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G.

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Efficacy and tolerability of adjunctive lacosamide in patients aged <4 years with focal seizures von Makedonska, Iryna, Ng, Yu‐Tze, Beller, Cynthia, Bozorg, Ali, Csikós, János, McClung, Carrie, Moeltgen, Holger, Farkas, Mark Kristof, Silva Pereira Almeida, Conceição Campanário, Altmann, Anna, Arefieva, Elena, Arnold, Susan, Axente, Mihaela, Baglietto, Maria Giuseppina, Bakhtadze, Sophio, Battaglia, Domenica Immacolata, Belova, Liudmila, Berényi, Marianne, Calcii, Cornelia, Cao, Dezhi, Gonzales, Juan Fernando Capristo, Moreno, Hugo Ceja, Chomolyak, Yuriy, De la Calzada, Jo Janette, Saint Martin, Anne, Delva, Dmytro, Desudchit, Tayard, Di Rosa, Gabriella, Dinopoulos, Argirios, Endziniene, Milda, Farkas, Viktor, Ferreira, Jose, Ferreira, José Carlos, Fogarasi, András, Forcelini, Cassiano Mateus, Goldberg‐Stern, Hadassa, Granata, Tiziana, Grigore, Ioana, Astorga, Christian Paul Guzman, Cantu, Jose Antonio Infante, Jiang, Li, Jiang, Yuwu, Kankirawatana, Pongkiat, Karakulova, Yulia, Khaletskaya, Olga, Kharytonov, Volodymyr, Kim, Heung Dong, Kim, Ki Joong, Pogancev, Marija Knezevic, Kraeva, Liudmila, Kravljanac, Ruzica, Kvernadze, David, Kyrychenko, Alla, Kyrychenko, Volodymyr, Lee, Wang‐Tso, Liang, Jianmin, López‐Meza, Elmer Guillermo, Lukban, Marissa, Lvova, Olga, Malenica, Maša, Mancardi, Maria Margherita, Martyniuk, Volodymyr, Melikishvili, Gia, Morse, Richard, Napuri, Sylvia, Nikolic, Dimitrije, Novak, Vilem, Nussbaum, Liliana Maria, Palacios, Claudio, Pilipenko, Pavel, Prawdzic‐Senkowska, Barbara, Prpic, Igor, Raja, Roshan, Shestakova, Olga, Strachunskaya, Maria, Román, Roberto Alfonso Suástegui, Tatishvili, Nino, Fuentes, Salvador Vázquez, Vigevano, Federico, Visa, Gabriela Adriana, Wang, Yi, Yacubian, Elza Márcia, Zhong, Jianmin

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Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: Identification of novel mutations von Raymond, Laure, Diebold, Bertrand, Leroux, Céline, Maurey, Hélène, Drouin-Garraud, Valérie, Delahaye, Andre, Dulac, Olivier, Metreau, Julia, Melikishvili, Gia, Toutain, Annick, Rivier, François, Bahi-Buisson, Nadia, Bienvenu, Thierry

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Encéphalopathie CDKL5 : crises épileptiques simulant des terreurs nocturnes von Gataullina, Svetlana, Melikishvili, Gia, Dulac, Olivier, Petitjean, Michel, Roisman, Gabriel

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