Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

  title={Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy},
  author={Amy Mctague and Umesh Nair and Sony Malhotra and E J Meyer and Natalie Trump and Elena V. Gazina and Apostolos Papandreou and Adeline Ngoh and Sally Ackermann and Gautam Ambegaonkar and Richard Appleton and Archana Desurkar and Christin Eltze and Rachel Kneen and Ajith Kumar and Karine Lascelles and Tara Montgomery and Venkateswaran Ramesh and Rajib Samanta and Richard H. Scott and Jeen Yu Tan and William Whitehouse and Annapurna H Poduri and Ingrid E. Scheffer and W. “Kling” Chong and J. Helen Cross and Maya Topf and Steven Petrou and Manju A. Kurian},
OBJECTIVE To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. METHODS We identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures (EIMFS) and screened for variants in KCNT1 using direct Sanger sequencing, a multiple-gene next-generation sequencing panel, and whole-exome sequencing. Additional patients with non-EIMFS early-onset epilepsy in whom we identified… CONTINUE READING
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