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2009 3
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Distribution of EFHC1 or Myoclonin 1 in mouse neural structures.
Léon C, de Nijs L, Chanas G, Delgado-Escueta AV, Grisar T, Lakaye B. Léon C, et al. Epilepsy Res. 2010 Feb;88(2-3):196-207. doi: 10.1016/j.eplepsyres.2009.11.009. Epub 2009 Dec 16. Epilepsy Res. 2010. PMID: 20015616 Free article.
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
Suzuki T, Miyamoto H, Nakahari T, Inoue I, Suemoto T, Jiang B, Hirota Y, Itohara S, Saido TC, Tsumoto T, Sawamoto K, Hensch TK, Delgado-Escueta AV, Yamakawa K. Suzuki T, et al. Hum Mol Genet. 2009 Mar 15;18(6):1099-109. doi: 10.1093/hmg/ddp006. Epub 2009 Jan 15. Hum Mol Genet. 2009. PMID: 19147686 Free PMC article.
Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.
Wight JE, Nguyen VH, Medina MT, Patterson C, Durón RM, Molina Y, Lin YC, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Tanaka M, Bai D, Aftab S, Bailey JN, Delgado-Escueta AV. Wight JE, et al. Mol Genet Genomic Med. 2016 Jan 23;4(2):197-210. doi: 10.1002/mgg3.195. eCollection 2016 Mar. Mol Genet Genomic Med. 2016. PMID: 27066514 Free PMC article.