SLC25A22 is a novel gene for migrating partial seizures in infancy. (Q33651270)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24596948%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

SLC25A22 is a novel gene for migrating partial seizures in infancy (English)

1 reference

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9 March 2020

1 reference

Francescomassimo Lasorsa

4

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9 March 2020

Christopher J Yuskaitis

8

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9 March 2020

Sanjeev V Kothare

17

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9 March 2020

Amy McTague

19

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9 March 2020

Ingrid Scheffer

21

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9 March 2020

Mustafa A. Salih

24

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9 March 2020

25

Christopher A Walsh

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9 March 2020

1

Annapurna Poduri

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9 March 2020

2

Erin L Heinzen

1 reference

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9 March 2020

author name string

Vida Chitsazzadeh

3

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9 March 2020

P Christina Elhosary

5

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9 March 2020

Christopher M LaCoursiere

6

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9 March 2020

Emilie Martin

7

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9 March 2020

Robert Sean Hill

9

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9 March 2020

Kutay Deniz Atabay

10

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9 March 2020

Brenda Barry

11

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9 March 2020

Jennifer N Partlow

12

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9 March 2020

Fahad A Bashiri

13

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9 March 2020

Radwan M Zeidan

14

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9 March 2020

Salah A Elmalik

15

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9 March 2020

Mohammad M U Kabiraj

16

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9 March 2020

Tommy Stödberg

18

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9 March 2020

Manju A Kurian

20

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9 March 2020

A James Barkovich

22

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9 March 2020

Ferdinando Palmieri

23

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9 March 2020

publication date

1 December 2013

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9 March 2020

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9 March 2020

volume

74

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9 March 2020

issue

6

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9 March 2020

page(s)

873-882

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The mitochondrial transporter family SLC25: identification, properties and physiopathology

9 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

De novo SCN1A mutations in migrating partial seizures of infancy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

WDR62 is associated with the spindle pole and is mutated in human microcephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

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

21 June 2018

1 reference

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Exome sequencing identifies the cause of a mendelian disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Structure and function of mitochondrial carriers - role of the transmembrane helix P and G residues in the gating and transport mechanism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

The insulin-like growth factor-I-mTOR signaling pathway induces the mitochondrial pyrimidine nucleotide carrier to promote cell growth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Temporal lobe dual pathology in malignant migrating partial seizures in infancy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Identification of the mitochondrial GTP/GDP transporter in Saccharomyces cerevisiae.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Primer3 on the WWW for general users and for biologist programmers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Direct methods for measuring metabolite transport and distribution in mitochondria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031329

Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy.

21 June 2018

1 reference

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

21 January 2018

1 reference

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

21 January 2018

1 reference

21 January 2018

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Duplication 16p11.2 in a child with infantile seizure disorder

21 January 2018

1 reference

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30 October 2018

Identifiers

DOI

10.1002/ANA.23998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24596948%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

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9 March 2020

PubMed publication ID

24596948

1 reference

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