(Q28271795)

1

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Jelena Khyuppenen

2

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Päivi Koskenkorva

3

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Kai Eriksson

4

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Ritva Vanninen

5

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Esa Mervaala

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

6

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language of work or name

English

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publication date

April 2008

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published in

Epilepsia

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volume

49

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issue

4

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page(s)

549-56

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cites work

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2008.01546.X

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2008.01546.X

21 April 2017

Brivaracetam (UCB 34714)

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2008.01546.X

Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations.

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Add-on therapy with topiramate in progressive myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Clinical presentations and phenomenology of myoclonus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Long-term evolution of EEG in Unverricht-Lundborg disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

A pilot tolerability and efficacy study of levetiracetam in patients with chronic myoclonus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Should we test children for "adult" genetic diseases?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Substantial thalamostriatal dopaminergic defect in Unverricht-Lundborg disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Progressive myoclonus epilepsy of Unverricht-Lundborg type

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Antimyoclonic effect of levetiracetam in 13 patients with Unverricht-Lundborg disease: clinical observations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Common dopaminergic mechanism for epileptic photosensitivity in progressive myoclonus epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

Diagnosis of infantile spasms, Lennox-Gastaut syndrome, and progressive myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2008.01546.X