1 | CLCN4, MRX49 |
The molecular and phenotypic spectrum of CLCN4-related epilepsy | |
He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T. | |
Epilepsia. Jun;62(6):1401-1415. doi: 10.1111/epi.16906. Epub 2021 May 5. 2021 | |
2 | CLCN4, MRX49 |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females | |
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. | |
Mol Psychiatry. Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23. 2018 | |
3 | MRX14, MRX15, MRX21, MRX30, MRX88, MRX54, MRX41, MRX35, MRX44, MRX45, MRX46, MRX48, MRX49, MRX50, MRX51, MRX52, MRX55, MRXS31 |
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium. | |
des Portes V, Beldjord C, Chelly J, Hamel B, Kremer H, Smits A, van Bokhoven H, Ropers HH, Claes S, Fryns JP, Ronce N, Gendrot C, Toutain A, Raynaud M, Moraine C. | |
Am J Med Genet 85(3):263-5. No abstract available. 1999 | |
4 | MRX49, MRX50 |
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). | |
Claes S, et al. | |
Am J Med Genet 73(4):474-9. 1997 | |