Article
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
Journal of neurology - 1 Apr 2022
Cherian Christina, Appendino Juan P, Ashtiani Setareh, Federico Paolo, Molnar Christine P, Kerr Marina, Khan Aneal, Au Ping Yee Billie, Klein Karl Martin
Abstract excerpt
BACKGROUND AND OBJECTIVE: Pathogenic variants in KCNT1 have been associated with severe forms of epilepsy, typically sleep-related hypermotor epilepsy or epilepsy of infancy with migrating focal seizures. To show that pathogenic variants in KCNT1 can be associated with mild extra-frontal epilepsy, we report a KCNT1 family with a wide spectrum of phenotypes ranging from developmental and epileptic encephalopathy...
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