Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?

Momen Almomen; Jong M Rho; Morris H Scantlebury

doi:10.1016/j.spen.2018.04.002

Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?

Semin Pediatr Neurol. 2018 Jul:26:33-36. doi: 10.1016/j.spen.2018.04.002.

Authors

Momen Almomen¹, Jong M Rho², Morris H Scantlebury³

Affiliations

¹ Department of Pediatrics, University of Calgary, Calgary, AB; Department of Clinical Neurosciences, University of Calgary, Calgary, AB.
² Department of Pediatrics, University of Calgary, Calgary, AB; Department of Physiology and Pharmacology, University of Calgary, Calgary, AB; Hotchkiss Brain Institute, University of Calgary, Calgary, AB; Department of Clinical Neurosciences, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB.
³ Department of Pediatrics, University of Calgary, Calgary, AB; Department of Clinical Neurosciences, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB. Electronic address: morris.scantlebury@albertahealthservices.ca.

PMID: 29961513
DOI: 10.1016/j.spen.2018.04.002

Abstract

The importance of so called variants of undetermined significance in the development of Infantile Epileptic Encephalopathy is discussed and an illustrative case is presented.

Publication types

Case Reports

MeSH terms

Epilepsy / drug therapy
Epilepsy / genetics*
Epilepsy / physiopathology
Humans
Infant
Male
Membrane Proteins / genetics*
Mutation*
NAV1.7 Voltage-Gated Sodium Channel / genetics*
Protein Serine-Threonine Kinases / genetics*

Substances

CLN8 protein, human
Membrane Proteins
NAV1.7 Voltage-Gated Sodium Channel
SCN9A protein, human
Protein Serine-Threonine Kinases
CDKL5 protein, human