Progressive myoclonic epilepsies: definitive and still undetermined causes. (Q37567498)

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4 March 2020

title

Progressive myoclonic epilepsies: definitive and still undetermined causes (English)

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Laura Canafoglia

3

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Antonio Gambardella

5

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Adriana Magaudda

6

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Paolo Tinuper

7

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Elisa Visani

13

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Carlo A Tassinari

16

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Federico Zara

18

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Giuseppe Gobbi

10

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author name string

Silvana Franceschetti

1

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Pasquale Striano

4

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Angela La Neve

8

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Edoardo Ferlazzo

9

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Anna Teresa Giallonardo

11

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Giuseppe Capovilla

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Ferruccio Panzica

14

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Giuliano Avanzini

15

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Amedeo Bianchi

17

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Collaborative LICE study group on PMEs

19

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language of work or name

English

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publication date

2 January 2014

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4 March 2020

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volume

82

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issue

5

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4 March 2020

page(s)

405-411

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Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

4 March 2020

cites work

1 reference

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A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

23 August 2017

1 reference

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Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

23 August 2017

1 reference

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A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917687

Clinical picture of EPM1-Unverricht-Lundborg disease

23 August 2017

1 reference

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Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

23 August 2017

1 reference

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Lafora's disease: towards a clinical, pathologic, and molecular synthesis

23 August 2017

1 reference

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Epilepsy in mitochondrial disorders.

23 August 2017

1 reference

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

6 September 2017

1 reference

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New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

6 September 2017

1 reference

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Kufs' disease: a critical reappraisal

14 September 2017

1 reference

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Progressive myoclonus epilepsies: specific causes and diagnosis

14 September 2017

1 reference

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Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum

14 September 2017

1 reference

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Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

14 September 2017

1 reference

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Characterizing POLG ataxia: clinics, electrophysiology and imaging

1 September 2018

1 reference

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Cortical myoclonus in childhood and juvenile onset Huntington's disease

1 September 2018

1 reference

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Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

1 September 2018

1 reference

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Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917687

Characterization of severe action myoclonus in sialidoses

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917687

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

1 September 2018

1 reference

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A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

1 September 2018

1 reference

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Rhythmic cortical myoclonus in Niemann-Pick disease type C.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917687

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917687

PROGRESSIVE MYOCLONUS EPILEPSY WITH LAFORA BODIES. CLINICAL-PATHOLOGICAL FEATURES.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917687

Epileptic phenotypes associated with mitochondrial disorders

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917687

Classification of progressive myoclonus epilepsies and related disorders

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917687

Progressive myoclonic ataxia with intrathecal immune activation in six patients

3 December 2018

1 reference

12 December 2020

Unverricht-Lundborg disease (EPM1)

1 reference

12 December 2020

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

1 reference

12 December 2020

Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinoses

1 reference

12 December 2020

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

1 reference

12 December 2020

10.1212/WNL.0000000000000077

Identifiers

DOI

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4 March 2020

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4 March 2020

PubMed publication ID

24384641

1 reference