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

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

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 i...

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Bibliographic Details
Main Authors: McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngho, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling ”, Cross, J.Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Format: Article
Published: American Academy of Neurology 2018
Online Access:https://eprints.nottingham.ac.uk/49506/

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