Cardiac phenotypic spectrum of KCNT1 mutations
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DOI: 10.1017/s1047951120002735
Abstract: Abstract We report a 10-month-old girl with KCNT1 (c1420C > T; p. Arg474Cys, R474C) mutation-associated epileptic encephalopathy, systemic-to-pulmonary artery “collateralopathy”, and intermittent QTc prolongation. Spontaneous regression of systemic-to-pulmonary artery collateral-mediated left heart dilation was noted… read more here.
Keywords: phenotypic; cardiac phenotypic; kcnt1 mutations; spectrum kcnt1 ... See more keywords
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy
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DOI: 10.1212/wnl.0000000000004762
Abstract: 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… read more here.
Keywords: onset; early onset; onset epilepsy; function ... See more keywords
Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review
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DOI: 10.3389/fneur.2019.00064
Abstract: Mutations in the Potassium channel subfamily T member 1 (KCNT1) gene have been reported in a range of epileptic encephalopathies. Here we report the case of a 12-year-old male suffering from multiple types of epileptic… read more here.
Keywords: kcnt1 mutation; lennox gastaut; syndrome kcnt1; gastaut syndrome ... See more keywords
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity
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DOI: 10.3390/ijms232315133
Abstract: KCNT1 (K+ channel subfamily T member 1) is a sodium-activated potassium channel highly expressed in the nervous system which regulates neuronal excitability by contributing to the resting membrane potential and hyperpolarisation following a train of… read more here.
Keywords: functional effects; resting membrane; membrane potential; kcnt1 ... See more keywords