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.

Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2009-07-01
Series:Pediatric Neurology Briefs
Subjects:
Online Access:https://www.pediatricneurologybriefs.com/articles/289
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spelling 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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