Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference15 articles.
1. Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype–phenotype correlation and a comprehensive review of previously published cases;Davidsson;Epilepsy Research,2008
2. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline;Kamiya;The Journal of Neuroscience,2004
3. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy;Holland;Neuroscience Letters,2008
4. A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons;Estacion;Experimental Neurology,2010
5. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear;Aridon;American Journal of Human Genetics,2006
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1. Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication;Epilepsy & Behavior Reports;2022
2. Seizures as the first manifestation of chromosome 2q24.2-q24.3 in a two and a half years old girl: A case report;Gynecology and Obstetrics Clinical Medicine;2021-09
3. Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review;Frontiers in Pharmacology;2020-08-18
4. Long noncoding RNA HOXA‐AS2 regulates the expression of SCN3A by sponging miR‐106a in breast cancer;Journal of Cellular Biochemistry;2019-04-16
5. A Rare Case of Duplication of Chromosome 2 (q31.3q36.3) in a 4.5-year-old Boy and Review of the Literature;INT J PEDIATR-MASSHA;2019
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