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Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G. Basel-Vanagaite L, et al. Among authors: heyman e. Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8. Am J Hum Genet. 2013. PMID: 23932106 Free PMC article.
Detection of copy number variations in epilepsy using exome data.
Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: heyman e. Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28940419
Epilepsy in children with infantile thiamine deficiency.
Fattal-Valevski A, Bloch-Mimouni A, Kivity S, Heyman E, Brezner A, Strausberg R, Inbar D, Kramer U, Goldberg-Stern H. Fattal-Valevski A, et al. Among authors: heyman e. Neurology. 2009 Sep 15;73(11):828-33. doi: 10.1212/WNL.0b013e3181b121f5. Epub 2009 Jul 1. Neurology. 2009. PMID: 19571254
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T. Zerem A, et al. Among authors: heyman e. Epilepsia. 2016 Nov;57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26. Epilepsia. 2016. PMID: 27665735 Free article.
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H. Aoto K, et al. Among authors: heyman e. Nat Commun. 2021 Apr 8;12(1):2107. doi: 10.1038/s41467-021-22389-5. Nat Commun. 2021. PMID: 33833240 Free PMC article.
Chorioangioma and its severe infantile sequelae: case report.
Maymon R, Hermann G, Reish O, Herman A, Strauss S, Sherman D, Heyman E. Maymon R, et al. Among authors: heyman e. Prenat Diagn. 2003 Dec 15;23(12):976-80. doi: 10.1002/pd.738. Prenat Diagn. 2003. PMID: 14663833
171 results