(Q34277615)

1 August 2017

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome (English)

1 reference

1 August 2017

1 reference

Esther Leshinsky-Silver

7

object named as

Esther Leshinsky-Silver

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Tally Lerman-Sagie

6

object named as

Tally Lerman-Sagie

1 reference

1 August 2017

3

Dorit Lev

1 reference

1 August 2017

Lubov Blumkin

1

1 reference

1 August 2017

Sara Kivity

2

1 reference

1 August 2017

Sarit Cohen

4

1 reference

1 August 2017

Ruth Shomrat

5

1 reference

1 August 2017

26 May 2012

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1 August 2017

1 reference

1 August 2017

259

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1 August 2017

12

1 reference

1 August 2017

2590-2598

1 reference

https://scigraph.springernature.com/pub.10.1007/s00415-012-6545-z

1 August 2017

0 references

cites work

Myoclonic encephalopathy of infants

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Cerebrospinal fluid ACTH and cortisol in opsoclonus-myoclonus: effect of therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Opsoclonus myoclonus syndrome in neuroblastoma a report from a workshop on the dancing eyes syndrome at the advances in neuroblastoma meeting in Genoa, Italy, 2004.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

CSF B-cell expansion in opsoclonus-myoclonus syndrome: a biomarker of disease activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Update on diagnosis, treatment, and prognosis in opsoclonus-myoclonus-ataxia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

The neurobiology of the opsoclonus-myoclonus syndrome

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/22638565

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Opsoclonus myoclonus: a non-epileptic movement disorder that may present as status epilepticus

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Ataxia without opsoclonus: right lumbar sympathetic trunk neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6545-Z

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22638565

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-012-6545-Z

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference