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Human Molecular Genetics|May 23, 2002
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotypeSubramaniam Ganesh, Antonio V Delgado-Escueta, Toshimitsu Suzuki, et al.Nature Communications|July 23, 2014
Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizuresNaoko H Tomioka, Hiroki Yasuda, Hiroyuki Miyamoto, et al.Neuroscience Letters|August 1, 2006
Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsyToshimitsu Suzuki, Antonio V Delgado-Escueta, Maria E Alonso, et al.Epilepsia|December 3, 2003
Recent developments in the quest for myoclonic epilepsy genesAntonio V Delgado-Escueta, Katerina B Perez-Gosiengfiao, Dongsheng Bai, et al.Epilepsy Research|August 30, 2002
Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5Toshimitsu Suzuki, Ryoji Morita, Yoshihisa Sugimoto, et al.European Journal of Human Genetics : EJHG|November 30, 2018
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesKohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, et al.Human Molecular Genetics|May 23, 2002
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in miceSubramaniam Ganesh, Antonio V Delgado-Escueta, Toshiro Sakamoto, et al.Epilepsia|October 1, 2008
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsyDongsheng Bai, Julia N Bailey, Reyna M Durón, et al.Scientific Reports|May 17, 2022
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainateToshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, et al.Annals of Clinical and Translational Neurology|June 13, 2020
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disordersToshimitsu Suzuki, Toshifumi Suzuki, Matthieu Raveau, et al.Pageof 9