The use of next-generation sequencing to unravel new genes: overcoming challenges posed by rare neurological disorders such as myoclonus-dystonia

Eur J Neurol. 2020 Aug;27(8):1459-1460. doi: 10.1111/ene.14296. Epub 2020 Jun 12.

Authors

R Gannamani^{1

2

3}, E R Timmers^{1

3}, M A J Tijssen^{1

3}

Affiliations

¹ Department of Neurology, University of Groningen, University Medical Centre Groningen (UMCG), Groningen, The Netherlands.
² Department of Genetics, University of Groningen, University Medical Centre Groningen (UMCG), Groningen, The Netherlands.
³ Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen (UMCG), Groningen, The Netherlands.

PMID: 32365425
DOI: 10.1111/ene.14296

No abstract available

Publication types

Editorial
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Dystonia*
Dystonic Disorders* / genetics
High-Throughput Nucleotide Sequencing
Humans
Mutation
Small-Conductance Calcium-Activated Potassium Channels

Substances

KCNN2 protein, human
Small-Conductance Calcium-Activated Potassium Channels

Supplementary concepts

Myoclonic dystonia