Doose Syndrome, also known as myoclonic-astatic epilepsy, is a form of epilepsy in which the genetic etiology has been somewhat elusive. A recent study by Carvill et al (Am J Hum Genet 2015 May 7;96(5):808-15. doi: 10.1016/j.ajhg.2015.02.016) reports that pathogenic variants in GAT-1, encoded by SLC6A1, can be responsible for up to 4% of cases of myoclonic-astatic epilepsy. Carvill et al. focused on this gene […]
Posts Categorized: Part 21: MEMBRANE TRANSPORT DISORDERS
Intestinal CFTR expression alleviates meconium ileus in cystic fibrosis pigs
The group of Michael Welsh has recently published a paper showing that CFTR expression in the intestine is sufficient to rescue meconium ileus in cystic fibrosis (CF) pigs. CF pigs develop disease with features remarkably similar to those of CF patients, including exocrine pancreatic destruction, focal biliary cirrhosis, micro-gallbladder, vas deferens loss, airway disease, and meconium ileus. Whereas […]
Cyclocreatine for therapy of creatine transporter deficiency
The second most common cause of X-linked mental retardation is the deficiency of creatine transporter (encoded by SLC6A8), which leads to speech and language disorders with severe cognitive impairment. This syndrome is caused by cerebral creatine deficiency. Kurosawa et al. have treated the Slc6a8–/y mice with cyclocreatine, a creatine analog which is more susceptible to […]
New IEM: Mitochondrial Phosphate-Carrier Deficiency
Mitochondrial Phosphate-Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris R. Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, and Wolfgang Sperl The American Journal of Human Genetics, volume 80 (2007)  This group describes two patients from the same […]
Congenital myasthenic syndromes
Science. 2006 Sep 29;313(5795):1975-8. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y. Â A new gene involved in a congenital myasthenic syndrome, in this case with […]
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