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Select item 71185751.

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

Kohei Hamanaka, Eri Imagawa, Eriko Koshimizu, Satoko Miyatake, Jun Tohyama, Takanori Yamagata, Akihiko Miyauchi, Nina Ekhilevitch, Fumio Nakamura, Takeshi Kawashima, Yoshio Goshima, Ahmad Rithauddin Mohamed, Gaik-Siew Ch'ng, Atsushi Fujita, Yoshiteru Azuma, Ken Yasuda, Shintaro Imamura, Mitsuko Nakashima, Hirotomo Saitsu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto

Am J Hum Genet. 2020 Apr 2; 106(4): 549–558. Published online 2020 Mar 12. doi: 10.1016/j.ajhg.2020.02.011

PMCID:: PMC7118575

Abstract Article PDF–1.3M

Select item 37783562.

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

Anne Frühmesser, Jonathon Blake, Edda Haberlandt, Bianka Baying, Benjamin Raeder, Heiko Runz, Ana Spreiz, Christine Fauth, Vladimir Benes, Gerd Utermann, Johannes Zschocke, Dieter Kotzot

Eur J Hum Genet. 2013 Oct; 21(10): 1177–1180. Published online 2013 Feb 20. doi: 10.1038/ejhg.2013.18