Article
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology - 2 Jan 2018
McTague Amy, Nair Umesh, Malhotra Sony, Meyer Esther, Trump Natalie, Gazina Elena V, Papandreou Apostolos, Ngoh 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
Abstract excerpt
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....
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