Mutations in KCNT1 cause a spectrum of focal epilepsies
Rikke S Moller, Sarah E Heron, Line HG Larsen, Chiao Xin Lim, Michael G Ricos, Marta A Bayly, Marjan JA van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent Kelley, Gabriel M Ronen, David Callen, Jacinta M McMahon, Simone C Yendle, Gemma L Carvill, Heather C Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, Maria G Baglietto Show all
EPILEPSIA | WILEY | Published : 2015
Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far..View full abstract
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Awarded by National Health and Medical Research Council of Australia
Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
We thank the patients and their families for their participation in this study. We thank Bev Johns and Robert Schultz for technical assistance. This work was supported by grants from the National Health and Medical Research Council of Australia (Early Career Fellowship 1016715 to SEH, Career Development Fellowship 1032603 to LMD, and Program Grant 628952 to LMD and IES).