(Q44455077)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23526554%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy (English)

1 reference

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27 February 2020

1 reference

1 reference

11

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27 February 2020

Anna Fassio

12

1 reference

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27 February 2020

Federico Zara

9

1 reference

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27 February 2020

author name string

Mathieu Milh

1

1 reference

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27 February 2020

Antonio Falace

2

1 reference

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27 February 2020

Nathalie Villeneuve

3

1 reference

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27 February 2020

Nicola Vanni

4

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27 February 2020

Pierre Cacciagli

5

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27 February 2020

Stefania Assereto

6

1 reference

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27 February 2020

Rima Nabbout

7

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27 February 2020

Fabio Benfenati

8

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27 February 2020

Brigitte Chabrol

10

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27 February 2020

publication date

12 April 2013

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27 February 2020

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27 February 2020

volume

34

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27 February 2020

issue

6

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27 February 2020

page(s)

869-872

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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

27 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

De novo SCN1A mutations in migrating partial seizures of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

Migrating partial seizures in infancy: a malignant disorder with developmental arrest.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

ARF proteins: roles in membrane traffic and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

ARF6 in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

Epileptic encephalopathies: a brief overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22318

21 January 2018

Identifiers

DOI

10.1002/HUMU.22318

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23526554%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

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