Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility.
Hayase Y, Amano S, Hashizume K, Tominaga T, Miyamoto H, Kanno Y, Ueno-Inoue Y, Inoue T, Yamada M, Ogata S, Balan S, Hayashi K, Miura Y, Tokudome K, Ohno Y, Nishijo T, Momiyama T, Yanagawa Y, Takizawa A, Mashimo T, Serikawa T, Sekine A, Nakagawa E, Takeshita E, Yoshikawa T, Waga C, Inoue K, Goto YI, Nabeshima Y, Ihara N, Yamakawa K, Taya S, Hoshino M.
Hayase Y, et al.
Acta Neuropathol Commun. 2020 Nov 30;8(1):206. doi: 10.1186/s40478-020-01082-6.
Acta Neuropathol Commun. 2020.
PMID: 33256836
Free PMC article.
In this report, via linkage analysis, we identified Down syndrome cell adhesion molecule-like 1(Dscaml1) as the responsible gene for IER. A single base mutation in Dscaml1 causes abnormal splicing, leading to lack of DSCAML1. ...Our findings suggest that muta …
In this report, via linkage analysis, we identified Down syndrome cell adhesion molecule-like 1(Dscaml1) as the responsible gene for …