Twinkle Mutations and Refractory Status Epilepticus
Severe epileptic encephalopathy and refractory status epilepticus are reported in a 20-year follow-up of 23 patients with recessive Twinkle mutations studied at Helsinki University Central Hospital, Finland.
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Pediatric Neurology Briefs Publishers
2009-07-01
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Online Access: | https://www.pediatricneurologybriefs.com/articles/289 |
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doaj-8dbfc3dd3c6a4be0a4c53234ab654e992020-11-25T03:09:21ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822009-07-01237515110.15844/pedneurbriefs-23-7-3275Twinkle Mutations and Refractory Status EpilepticusJ Gordon Millichap0Northwestern University Feinberg School of MedicineSevere epileptic encephalopathy and refractory status epilepticus are reported in a 20-year follow-up of 23 patients with recessive Twinkle mutations studied at Helsinki University Central Hospital, Finland.https://www.pediatricneurologybriefs.com/articles/289homozygotesphenytoinbrain atrophy |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
J Gordon Millichap |
spellingShingle |
J Gordon Millichap Twinkle Mutations and Refractory Status Epilepticus Pediatric Neurology Briefs homozygotes phenytoin brain atrophy |
author_facet |
J Gordon Millichap |
author_sort |
J Gordon Millichap |
title |
Twinkle Mutations and Refractory Status Epilepticus |
title_short |
Twinkle Mutations and Refractory Status Epilepticus |
title_full |
Twinkle Mutations and Refractory Status Epilepticus |
title_fullStr |
Twinkle Mutations and Refractory Status Epilepticus |
title_full_unstemmed |
Twinkle Mutations and Refractory Status Epilepticus |
title_sort |
twinkle mutations and refractory status epilepticus |
publisher |
Pediatric Neurology Briefs Publishers |
series |
Pediatric Neurology Briefs |
issn |
1043-3155 2166-6482 |
publishDate |
2009-07-01 |
description |
Severe epileptic encephalopathy and refractory status epilepticus are reported in a 20-year follow-up of 23 patients with recessive Twinkle mutations studied at Helsinki University Central Hospital, Finland. |
topic |
homozygotes phenytoin brain atrophy |
url |
https://www.pediatricneurologybriefs.com/articles/289 |
work_keys_str_mv |
AT jgordonmillichap twinklemutationsandrefractorystatusepilepticus |
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1724663117528432640 |