Research Article

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  Epilepsy Course and Developmental Trajectories in STXBP1-DEE

  Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Rios, Deepa Sirsi, Patrizia Accorsi, Elisabetta Amadori, Guja Astrea, Simona Baldassari, Francesca Beccaria, Antonella Boni, Mauro Budetta, Gaetano Cantalupo, Giuseppe Capovilla, Elisabetta Cesaroni, Valentina Chiesa, Antonietta Coppola, Robertino Dilena, Raffaella Faggioli, Annarita Ferrari, Elena Fiorini, Francesca Madia, Elena Gennaro, Thea Giacomini, Lucio Giordano, Michele Iacomino, Simona Lattanzi, Carla Marini, Maria Margherita Mancardi, Massimo Mastrangelo, Tullio Messana, Carlo Minetti, Lino Nobili, Amanda Papa, Antonia Parmeggiani, Tiziana Pisano, Angelo Russo, Vincenzo Salpietro, Salvatore Savasta, Marcello Scala, Andrea Accogli, Barbara Scelsa, Paolo Scudieri, Alberto Spalice, Nicola Specchio, Marina Trivisano, Michal Tzadok, Massimiliano Valeriani, Maria Stella Vari, Alberto Verrotti, Federico Vigevano, Aglaia Vignoli, Ruud Toonen, Federico Zara, Ingo Helbig, Pasquale Striano

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  Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss

  Tanja Višnjar, Aleš Maver, Karin Writzl, Ornela Maloku, Gaber Bergant, Helena Jaklič, David Neubauer, Federico Fogolari, Nuška Pečarič Meglič, Borut Peterlin

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  DNA Methylation of the Natriuretic Peptide System Genes and Ischemic StrokeGene-Based and Gene Set Analyses

  Hao Peng, Yiming Fan, Jing Li, Xiaowei Zheng, Chongke Zhong, Zhengbao Zhu, Yan He, Mingzhi Zhang, Yonghong Zhang

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  Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo

  Kazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, Tomoyasu Bunai, Yasuomi Ouchi, Tomohiko Nakamura, Hiroaki Miyajima, Hirotomo Saitsu

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  Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia

  Layne N. Rodden, Christian Rummey, Yi Na Dong, David R. Lynch

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  Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

  Baiba Lace, Ieva Micule, Viktorija Kenina, Signe Setlere, Jurgis Strautmanis, Inese Kazaine, Gita Taurina, Daiga Murmane, Ieva Grinfelde, Liene Kornejeva, Zita Krumina, Olga Sterna, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Janis Stavusis, Diana Livcane, Dita Kidere, Ieva Malniece, Inna Inashkina

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