The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy-Reference-Cited by-同舟云学术

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy

Published:2021-09-19 Issue: Volume: Page:
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Cherian Christina,Appendino Juan P.^ORCID,Ashtiani Setareh,Federico Paolo,Molnar Christine P.,Kerr Marina,Khan Aneal,Au Ping Yee Billie,Klein Karl Martin^ORCID

Funder

hotchkiss brain institute, university of calgary

alberta children's hospital research institute

cumming school of medicine, university of calgary

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-021-10808-y.pdf

Reference26 articles.

1. Heron SE, Smith KR, Bahlo M et al (2012) Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 44:1188–1190. https://doi.org/10.1038/ng.2440

2. Barcia G, Fleming MR, Deligniere A et al (2012) De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 44:1255–1259. https://doi.org/10.1038/ng.2441

3. Borlot F, Abushama A, Morrison-Levy N et al (2020) KCNT1-related epilepsy: an international multicenter cohort of 27 pediatric cases. Epilepsia 61:679–692. https://doi.org/10.1111/epi.16480

4. Ohba C, Kato M, Takahashi N et al (2015) De novo KCNT1 mutations in early-onset epileptic encephalopathy. Epilepsia 56:e121–e128. https://doi.org/10.1111/epi.13072

5. McTague A, Appleton R, Avula S et al (2013) Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain : a journal of neurology 136:1578–1591. https://doi.org/10.1093/brain/awt073

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