Rhythmic cortical myoclonus in patients with 6Q22.1 deletion
Author:
Funder
Ministero della Salute
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference10 articles.
1. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases;Rosenfeld;Neurogenetics,2012
2. 6q22.1 microdeletion and susceptibility to pediatric epilepsy;Szafranski;Eur. J. Hum. Genet.,2015
3. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies;Hamdan;Am. J. Hum. Genet.,2017
4. Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report;Den;BMC Neurol.,2019
5. A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor;Haginoya;Epilepsy Behav Rep,2020
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