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Deep brain stimulation in three related cases of North Sea progressive myoclonic epilepsy from South Africa

Abstract:

We report on a white Afrikaans family from eastern South Africa with three members affected with North Sea progressive myoclonus epilepsy, resulting from a homozygous founder GOSR2 mutation (c.430G>T, p.Gly144Trp). The mutation was identified by exomic sequencing in a research study investigating childhood onset ataxias. All three subjects presented with ataxia, tremor, early gait difficulties, and myoclonic and generalized tonic clonic (GTC) epilepsy. Each patient underwent deep brain sti...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/mdc3.12372

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDORMS
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Clinical Laboratory Sciences
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Cardiovascular Medicine
Role:
Author
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Funding agency for:
Németh, AH
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Funding agency for:
Németh, AH
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Funding agency for:
Németh, AH
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Publisher:
Wiley Publisher's website
Journal:
Movement Disorders Clinical Practice Journal website
Volume:
4
Issue:
2
Pages:
249-253
Publication date:
2016-06-16
Acceptance date:
2016-04-10
DOI:
ISSN:
2330-1619
Pubs id:
pubs:815205
URN:
uri:fde64b69-2186-45ee-8461-12eac212114b
UUID:
uuid:fde64b69-2186-45ee-8461-12eac212114b
Local pid:
pubs:815205

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