Literature DB >> 20041943

A long-term follow-up study of Dravet syndrome up to adulthood.

Mari Akiyama1, Katsuhiro Kobayashi, Harumi Yoshinaga, Yoko Ohtsuka.   

Abstract

PURPOSE: We intended to elucidate the whole clinical course of Dravet syndrome (DS) comprehensively, from infancy through adulthood.
METHODS: Subjects were 31 patients with DS (14 with typical DS, and 17 with borderline DS) who were followed from childhood to at least 18 years of age. Their seizures, abilities, and electroencephalography (EEG) findings were investigated and statistically analyzed.
RESULTS: The clinical findings of the patients with typical DS and those with borderline DS became largely similar in adolescence and adulthood. Seizures were intractable in childhood in all patients, but suppressed in five (16.1%) during follow-up. Thirty-five (87.5%) of the 40 apparently generalized convulsive seizures that were captured by ictal EEG recording at 7 years of age or later were of focal origin. The seizure-free outcomes were significantly correlated with the experience of <3 episodes of convulsive status epilepticus, and also with disappearance of spikes on the follow-up EEGs. Mental outcomes involving less severe intellectual disability were correlated with the presence of occipital alpha rhythms in the background activity of the follow-up EEGs. Mean age at the recording of the follow-up EEGs was 23.8 years. DISCUSSION: Prevention of the occurrence of convulsive status epilepticus was indicated to be critically important for the improvement of seizure prognosis in DS.

Entities:  

Mesh:

Year:  2009        PMID: 20041943     DOI: 10.1111/j.1528-1167.2009.02466.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  34 in total

1.  Severe Myoclonic Epilepsy in Infancy - Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases.

Authors:  P Martin; B Rautenstrauβ; A Abicht; J Fahrbach; S Koster
Journal:  Mol Syndromol       Date:  2011-03-26

Review 2.  SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome.

Authors:  Alex C Bender; Richard P Morse; Rod C Scott; Gregory L Holmes; Pierre-Pascal Lenck-Santini
Journal:  Epilepsy Behav       Date:  2012-02-16       Impact factor: 2.937

3.  Maturation of EEG oscillations in children with sodium channel mutations.

Authors:  Gregory L Holmes; Alex C Bender; Edie X Wu; Rod C Scott; Pierre Pascal Lenck-Santini; Richard P Morse
Journal:  Brain Dev       Date:  2011-09-21       Impact factor: 1.961

4.  GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Authors:  Gemma L Carvill; Sarah Weckhuysen; Jacinta M McMahon; Corinna Hartmann; Rikke S Møller; Helle Hjalgrim; Joseph Cook; Eileen Geraghty; Brian J O'Roak; Steve Petrou; Alison Clarke; Deepak Gill; Lynette G Sadleir; Hiltrud Muhle; Sarah von Spiczak; Marina Nikanorova; Bree L Hodgson; Elena V Gazina; Arvid Suls; Jay Shendure; Leanne M Dibbens; Peter De Jonghe; Ingo Helbig; Samuel F Berkovic; Ingrid E Scheffer; Heather C Mefford
Journal:  Neurology       Date:  2014-03-12       Impact factor: 9.910

5.  Early-onset genetic epilepsies reaching adult clinics.

Authors:  David Lewis-Smith; Colin A Ellis; Ingo Helbig; Rhys H Thomas
Journal:  Brain       Date:  2020-03-01       Impact factor: 13.501

Review 6.  Treatment Strategies for Dravet Syndrome.

Authors:  Kelly G Knupp; Elaine C Wirrell
Journal:  CNS Drugs       Date:  2018-04       Impact factor: 5.749

Review 7.  Pharmacotherapy for Dravet Syndrome.

Authors:  Adam Wallace; Elaine Wirrell; Daniel L Kenney-Jung
Journal:  Paediatr Drugs       Date:  2016-06       Impact factor: 3.022

Review 8.  Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions.

Authors:  Franck Kalume
Journal:  Respir Physiol Neurobiol       Date:  2013-07-09       Impact factor: 1.931

9.  Sudden unexpected death in a mouse model of Dravet syndrome.

Authors:  Franck Kalume; Ruth E Westenbroek; Christine S Cheah; Frank H Yu; John C Oakley; Todd Scheuer; William A Catterall
Journal:  J Clin Invest       Date:  2013-03-25       Impact factor: 14.808

10.  Focal Scn1a knockdown induces cognitive impairment without seizures.

Authors:  Alex C Bender; Heather Natola; Christian Ndong; Gregory L Holmes; Rod C Scott; Pierre-Pascal Lenck-Santini
Journal:  Neurobiol Dis       Date:  2013-01-11       Impact factor: 5.996

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