Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan von Elsayed, Liena E O, Mohammed, Inaam N, Hamed, Ahlam A A, Elseed, Maha A, Johnson, Adam, Mairey, Mathilde, Mohamed, Hassab Elrasoul S A, Idris, Mohamed N, Salih, Mustafa A M, El-Sadig, Sarah M, Koko, Mahmoud E, Mohamed, Ashraf Y O, Raymond, Laure, Coutelier, Marie, Darios, Frédéric, Siddig, Rayan A, Ahmed, Ahmed K M A, Babai, Arwa M A, Malik, Hiba M O, Omer, Zulfa M B M, Mohamed, Eman O E, Eltahir, Hanan B, Magboul, Nasr Aldin A, Bushara, Elfatih E, Elnour, Abdelrahman, Rahim, Salah M Abdel, Alattaya, Abdelmoneim, Elbashir, Mustafa I, Ibrahim, Muntaser E, Durr, Alexandra, Audhya, Anjon, Brice, Alexis, Ahmed, Ammar E, Stevanin, Giovanni

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Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related... von Kegele, Josua, Krueger, Johanna, Koko, Mahmoud, Lange, Lara, Marco Hernandez, Ana Victoria, Martinez, Francisco, Muenchau, Alexander, Lerche, Holger, Lauxmann, Stephan

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Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan von Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Abubaker, Rayan, Bakhit, Yousuf, Babai, Arwa, Elbadi, Eman, Eltaraifee, Esraa, Mustafa, Doua, Yahia, Ashraf, Osman, Melka, Koko, Mahmoud, Mustafa, Mohamed, Alsiddig, Mohamed, Haroun, Sahwah, Elshafea, Azza, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen

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EBV Associated Breast Cancer Whole Methylome Analysis Reveals Viral and Developmental Enriched Pathways von Abdallah, Mohammad O E, Algizouli, Ubai K, Suliman, Maram A, Abdulrahman, Rawya A, Koko, Mahmoud, Fessahaye, Ghimja, Shakir, Jamal H, Fahal, Ahmed H, Elhassan, Ahmed M, Ibrahim, Muntaser E, Mohamed, Hiba S

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Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family von Elsayed, Liena E. O., Mohammed, Inaam N., Hamed, Ahlam A. A., Elseed, Maha A., Salih, Mustafa A. M., Yahia, Ashraf, Abubaker, Rayan, Koko, Mahmoud, Abd Allah, Amal S. I., Elbashir, Mustafa I., Ibrahim, Muntaser E., Brice, Alexis, Ahmed, Ammar E., Stevanin, Giovanni

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A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function? von Liu, Yuanyuan, Koko, Mahmoud, Lerche, Holger

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Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data von Koko, Mahmoud, Abdallah, Mohammed O E, Amin, Mutaz, Ibrahim, Muntaser

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Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype von Knierim, Ellen, Vogt, Johannes, Kintscher, Michael, Ponomarenko, Alexey, Baumgart, Jan, Beed, Prateep, Korotkova, Tatiana, Trimbuch, Thorsten, Panzer, Axel, Steinlein, Ortrud K, Stephani, Ulrich, Escayg, Andrew, Koko, Mahmoud, Liu, Yuanyuan, Lerche, Holger, Schmitz, Dietmar, Nitsch, Robert, Schuelke, Markus

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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy von Ahring, Philip K, Liao, Vivian W Y, Gardella, Elena, Johannesen, Katrine M, Krey, Ilona, Selmer, Kaja K, Stadheim, Barbro F, Davis, Hannah, Peinhardt, Charlotte, Koko, Mahmoud, Coorg, Rohini K, Syrbe, Steffen, Bertsche, Astrid, Santiago-Sim, Teresa, Diemer, Tue, Fenger, Christina D, Platzer, Konrad, Eichler, Evan E, Lerche, Holger, Lemke, Johannes R, Chebib, Mary, Møller, Rikke S

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Examining the role of common variants in rare neurodevelopmental conditions von Huang, Qin Qin, Wigdor, Emilie M, Malawsky, Daniel S, Campbell, Patrick, Samocha, Kaitlin E, Chundru, V Kartik, Danecek, Petr, Lindsay, Sarah, Marchant, Thomas, Koko, Mahmoud, Amanat, Sana, Bonfanti, Davide, Sheridan, Eamonn, Radford, Elizabeth J, Barrett, Jeffrey C, Wright, Caroline F, Firth, Helen V, Warrier, Varun, Strudwick Young, Alexander, Hurles, Matthew E, Martin, Hilary C

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A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease von Elsayed, Liena Elbaghir Omer, Drouet, Valérie, Usenko, Tatiana, Mohammed, Inaam N., Hamed, Ahlam AbdAlrahman Ahmed, Elseed, Maha Abdelmoneim, Salih, Mustafa A.M., Koko, Mahmoud Eltayeb, Mohamed, Ashraf Yahia Osman, Siddig, Rayan Abubaker, Elbashir, Mustafa Idris, Ibrahim, Muntaser Eltayeb, Durr, Alexandra, Stevanin, Giovanni, Lesage, Suzanne, Ahmed, Ammar Eltahir, Brice, Alexis

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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage von Martins, Sandra, Yahia, Ashraf, Costa, Inês P. D., Siddig, Hassab E., Abubaker, Rayan, Koko, Mahmoud, Corral-Juan, Marc, Matilla-Dueñas, Antoni, Brice, Alexis, Durr, Alexandra, Leguern, Eric, Ranum, Laura P. W., Amorim, António, Elsayed, Liena E. O., Stevanin, Giovanni, Sequeiros, Jorge

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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes von Flannery, Kyle P., Safwat, Sylvia, Matsell, Eli, Battula, Namarata, Hamed, Ahlam A. A., Mohamed, Inaam N., Elseed, Maha A., Koko, Mahmoud, Abubaker, Rayan, Abozar, Fatima, Elsayed, Liena E. O., Bhise, Vikram, Molday, Robert S., Salih, Mustafa A., Yahia, Ashraf, Manzini, M. Chiara

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Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy von Koko, Mahmoud, Elseed, Maha A., Mohammed, Inaam N., Hamed, Ahlam A., Abd Allah, Amal S. I., Yahia, Ashraf, Siddig, Rayan A., Altmüller, Janine, Toliat, Mohammad Reza, Elmahdi, Esra O., Amin, Mutaz, Ahmed, Elhami A., Eltazi, Isra Z. M., Elmugadam, Fatima A., Abdelgadir, Wasma A., Eltaraifee, Esraa, Ibrahim, Mohamed O. M., Ali, Nabila M. H., Malik, Hiba M., Babai, Arwa M., Bakhit, Yousuf H., Nürnberg, Peter, Ibrahim, Muntaser E., Salih, Mustafa A., Schubert, Julian, Elsayed, Liena E. O., Lerche, Holger

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Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations von Yahia, Ashraf, Hamed, Ahlam A. A., Mohamed, Inaam N., Elseed, Maha A., Salih, Mustafa A., El-sadig, Sarah M., Siddig, Hassab Elrasoul, Nasreldien, Ali Elsir Musa, Abdullah, Mohamed Ahmed, Elzubair, Maha, Omer, Farouk Yassen, Bakhiet, Aisha Motwakil, Abubaker, Rayan, Abozar, Fatima, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Eltazi, Isra Z. M., Omer, Zulfa, Malik, Hiba, Mohamed, Mayada O. E., Elhassan, Ali A., Mohamed, Eman O. E., Ahmed, Ahmed K. M. A., Ahmed, Elhami A. A., Eltaraifee, Esraa, Hussein, Bidour K., Abd Allah, Amal S. I., Salah, Lina, Nimir, Mohamed, Tag Elseed, Omnia M., Elhassan, Tasneem E. A., Elbashier, Abubakr, Alfadul, Esraa S. A., Fadul, Moneeb, Ali, Khalil F., Taha, Shaimaa Omer M. A., Bushara, Elfatih E., Amin, Mutaz, Koko, Mahmoud, Ibrahim, Muntaser E., Ahmed, Ammar E., Elsayed, Liena E. O., Stevanin, Giovanni

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mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data von Roberta Celli, Pasquale Striano, Rita Citraro, Luisa Di Menna, Milena Cannella, Tiziana Imbriglio, Mahmoud Koko, Giovambattista De Sarro, James A. Monn, Giuseppe Battaglia, Gilles Van Luijtelaar, Ferdinando Nicoletti, Emilio Russo, Antonio Leo

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Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 von Cauley, Edmund S., Hamed, Ahlam, Mohamed, Inaam N., Elseed, Maha, Martinez, Samantha, Yahia, Ashraf, Abozar, Fatima, Abubakr, Rayan, Koko, Mahmoud, Elsayed, Liena, Piao, Xianhua, Salih, Mustafa A., Manzini, M. Chiara

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An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families von Koko, Mahmoud, Yahia, Ashraf, Elsayed, Liena E., Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Hamad, Muddathir H. A., Babai, Arwa M., Siddig, Rayan A., Abd Allah, Amal S. I., Mohamed, Mayada, EL‐Amin, Melka, Esteves, Typhaine, Altmüller, Janine, Toliat, Mohammad Reza, Thiele, Holger, Nürnberg, Peter, Salih, Mustafa A., Ahmed, Ammar E., Lerche, Holger, Stevanin, Giovanni

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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia von Lyu, Hang, Boßelmann, Christian M, Johannesen, Katrine M, Koko, Mahmoud, Ortigoza-Escobar, Juan Dario, Aguilera-Albesa, Sergio, Garcia-Navas Núñez, Deyanira, Linnankivi, Tarja, Gaily, Eija, van Ruiten, Henriette J A, Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schöls, Ludger, Lerche, Holger, Møller, Rikke S, Liu, Yuanyuan

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mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data von Celli, Roberta, Striano, Pasquale, Citraro, Rita, Di Menna, Luisa, Cannella, Milena, Imbriglio, Tiziana, Koko, Mahmoud, Euro Epinomics-Cogie Consortium, De Sarro, Giovambattista, Monn, James A, Battaglia, Giuseppe, Luijtelaar, Gilles Van, Nicoletti, Ferdinando, Russo, Emilio, Leo, Antonio

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