Indication

Target/marker/pathway

Summary

Licensing status

Publication and contact information

Neurology

Encephalopathy

Potassium channel subfamily T member 1 (KCNT1)

Genetic studies suggest activating mutations in KCNT1 could help diagnose malignant migrating partial seizures of infancy (MMPSI). Exome sequencing studies of 12 patients with MMPSI, identified mutations in KCNT1 in 6 patients but not in their unaffected parents or in 200 unaffected controls. In Xenopus laevis oocytes, rat Kcnt1 with the disease-associated mutations was a constitutively active ion channel, whereas wild-type rat Kcnt1 was not. Next steps could include studies in additional patients.

SciBX 5(43); doi:10.1038/scibx.2012.1143
Published online Nov. 1, 2012

Patent and licensing status unavailable

Barcia, G. et al. Nat. Genet.; published online Oct. 21, 2012;
doi:10.1038/ng.2441
Contact: Rima Nabbout, Necker Hospital-Hospital for Sick Children, Paris, France
e-mail:
rimanabbout@yahoo.com