SLC9A6
MIM.300231 Chr.X
Pathology
germline mutations in X-linked mental retardation (XLMR) syndrome
- microcephaly
- epilepsy
- ataxia
- absent speech
References
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. Am J Hum Genet. 2008 Mar 12; PMID: #18342287#